The c.1595G>A (p.G532D) alteration is located in exon 11 (coding exon 9) of the ZNF384 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the glycine (G) at amino acid position 532 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001385745.1(ZNF384):c.1688G>A (p.Gly563Asp)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001385745.1(ZNF384):c.1688G>A (p.Gly563Asp)
Variation ID: 2567562 Accession: VCV002567562.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12p13.31 12: 6667853 (GRCh38) [ NCBI UCSC ] 12: 6777019 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 8, 2023 May 1, 2024 Mar 24, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385745.1:c.1688G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372674.1:p.Gly563Asp missense NM_001039920.3:c.1247G>A NP_001035009.1:p.Gly416Asp missense NM_001135734.3:c.1595G>A NP_001129206.1:p.Gly532Asp missense NM_001385739.1:c.1412G>A NP_001372668.1:p.Gly471Asp missense NM_001385740.1:c.1412G>A NP_001372669.1:p.Gly471Asp missense NM_001385741.1:c.1364G>A NP_001372670.1:p.Gly455Asp missense NM_001385742.1:c.1364G>A NP_001372671.1:p.Gly455Asp missense NM_001385743.1:c.1688G>A NP_001372672.1:p.Gly563Asp missense NM_001385744.1:c.1688G>A NP_001372673.1:p.Gly563Asp missense NM_001385746.1:c.1688G>A NP_001372675.1:p.Gly563Asp missense NM_001385747.1:c.1688G>A NP_001372676.1:p.Gly563Asp missense NM_001385748.1:c.1640G>A NP_001372677.1:p.Gly547Asp missense NM_001385749.1:c.1640G>A NP_001372678.1:p.Gly547Asp missense NM_001385750.1:c.1595G>A NP_001372679.1:p.Gly532Asp missense NM_001385751.1:c.1595G>A NP_001372680.1:p.Gly532Asp missense NM_001385752.1:c.1595G>A NP_001372681.1:p.Gly532Asp missense NM_001385753.1:c.1595G>A NP_001372682.1:p.Gly532Asp missense NM_001385754.1:c.1595G>A NP_001372683.1:p.Gly532Asp missense NM_001385755.1:c.1595G>A NP_001372684.1:p.Gly532Asp missense NM_001385756.1:c.1595G>A NP_001372685.1:p.Gly532Asp missense NM_001385757.1:c.1595G>A NP_001372686.1:p.Gly532Asp missense NM_001385758.1:c.1547G>A NP_001372687.1:p.Gly516Asp missense NM_001385759.1:c.1547G>A NP_001372688.1:p.Gly516Asp missense NM_001385760.1:c.1547G>A NP_001372689.1:p.Gly516Asp missense NM_001385761.1:c.1547G>A NP_001372690.1:p.Gly516Asp missense NM_001385762.1:c.1523G>A NP_001372691.1:p.Gly508Asp missense NM_001385763.1:c.1505G>A NP_001372692.1:p.Gly502Asp missense NM_001385764.1:c.1505G>A NP_001372693.1:p.Gly502Asp missense NM_001385765.1:c.1505G>A NP_001372694.1:p.Gly502Asp missense NM_001385766.1:c.1505G>A NP_001372695.1:p.Gly502Asp missense NM_001385767.1:c.1505G>A NP_001372696.1:p.Gly502Asp missense NM_001385768.1:c.1457G>A NP_001372697.1:p.Gly486Asp missense NM_001385769.1:c.1457G>A NP_001372698.1:p.Gly486Asp missense NM_001385770.1:c.1457G>A NP_001372699.1:p.Gly486Asp missense NM_001385771.1:c.1436G>A NP_001372700.1:p.Gly479Asp missense NM_001385772.1:c.1430G>A NP_001372701.1:p.Gly477Asp missense NM_001385773.1:c.1412G>A NP_001372702.1:p.Gly471Asp missense NM_001385774.1:c.1412G>A NP_001372703.1:p.Gly471Asp missense NM_001385775.1:c.1412G>A NP_001372704.1:p.Gly471Asp missense NM_001385776.1:c.1412G>A NP_001372705.1:p.Gly471Asp missense NM_001385777.1:c.1412G>A NP_001372706.1:p.Gly471Asp missense NM_001385778.1:c.1412G>A NP_001372707.1:p.Gly471Asp missense NM_001385779.1:c.1412G>A NP_001372708.1:p.Gly471Asp missense NM_001385780.1:c.1412G>A NP_001372709.1:p.Gly471Asp missense NM_001385781.1:c.1412G>A NP_001372710.1:p.Gly471Asp missense NM_001385782.1:c.1412G>A NP_001372711.1:p.Gly471Asp missense NM_001385783.1:c.1412G>A NP_001372712.1:p.Gly471Asp missense NM_001385784.1:c.1412G>A NP_001372713.1:p.Gly471Asp missense NM_001385785.1:c.1412G>A NP_001372714.1:p.Gly471Asp missense NM_001385786.1:c.1412G>A NP_001372715.1:p.Gly471Asp missense NM_001385787.1:c.1364G>A NP_001372716.1:p.Gly455Asp missense NM_001385788.1:c.1364G>A NP_001372717.1:p.Gly455Asp missense NM_001385789.1:c.1364G>A NP_001372718.1:p.Gly455Asp missense NM_001385790.1:c.1364G>A NP_001372719.1:p.Gly455Asp missense NM_001385791.1:c.1364G>A NP_001372720.1:p.Gly455Asp missense NM_001385792.1:c.1364G>A NP_001372721.1:p.Gly455Asp missense NM_001385793.1:c.1364G>A NP_001372722.1:p.Gly455Asp missense NM_001385794.1:c.1364G>A NP_001372723.1:p.Gly455Asp missense NM_001385795.1:c.1364G>A NP_001372724.1:p.Gly455Asp missense NM_001385796.1:c.1295G>A NP_001372725.1:p.Gly432Asp missense NM_001385797.1:c.1268G>A NP_001372726.1:p.Gly423Asp missense NM_001385798.1:c.1247G>A NP_001372727.1:p.Gly416Asp missense NM_001385799.1:c.1247G>A NP_001372728.1:p.Gly416Asp missense NM_001385800.1:c.1247G>A NP_001372729.1:p.Gly416Asp missense NM_001385801.1:c.1205G>A NP_001372730.1:p.Gly402Asp missense NM_133476.5:c.1412G>A NP_597733.2:p.Gly471Asp missense NR_169758.1:n.2784G>A non-coding transcript variant NR_169759.1:n.1913G>A non-coding transcript variant NR_169760.1:n.2691G>A non-coding transcript variant NR_169761.1:n.2174G>A non-coding transcript variant NR_169762.1:n.1772G>A non-coding transcript variant NC_000012.12:g.6667853C>T NC_000012.11:g.6777019C>T NG_047151.1:g.297G>A - Protein change
- G486D, G532D, G479D, G502D, G547D, G402D, G432D, G455D, G477D, G516D, G416D, G423D, G471D, G508D, G563D
- Other names
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- Canonical SPDI
- NC_000012.12:6667852:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| ZNF384 | - | - |
GRCh38 GRCh37 |
39 | 88 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Mar 24, 2023 | RCV004332674.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Mar 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004007889.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.1595G>A (p.G532D) alteration is located in exon 11 (coding exon 9) of the ZNF384 gene. This alteration results from a G to A substitution … (more)
The c.1595G>A (p.G532D) alteration is located in exon 11 (coding exon 9) of the ZNF384 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the glycine (G) at amino acid position 532 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.1595G>A (p.G532D) alteration is located in exon 11 (coding exon 9) of the ZNF384 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the glycine (G) at amino acid position 532 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.