ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
Variation ID: 2679328 Accession: VCV002679328.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 2086274 (GRCh38) [ NCBI UCSC ] 16: 2136275 (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 Dec 30, 2023 Dec 30, 2023 Oct 2, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.4744A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Ile1582Val missense NM_001077183.3:c.4543A>G NP_001070651.1:p.Ile1515Val missense NM_001114382.3:c.4675A>G NP_001107854.1:p.Ile1559Val missense NM_001318827.2:c.4435A>G NP_001305756.1:p.Ile1479Val missense NM_001318829.2:c.4399A>G NP_001305758.1:p.Ile1467Val missense NM_001318831.2:c.4012A>G NP_001305760.1:p.Ile1338Val missense NM_001318832.2:c.4576A>G NP_001305761.1:p.Ile1526Val missense NM_001363528.2:c.4546A>G NP_001350457.1:p.Ile1516Val missense NM_001370404.1:c.4612A>G NP_001357333.1:p.Ile1538Val missense NM_001370405.1:c.4615A>G NP_001357334.1:p.Ile1539Val missense NM_001406663.1:c.4741A>G NP_001393592.1:p.Ile1581Val missense NM_001406664.1:c.4672A>G NP_001393593.1:p.Ile1558Val missense NM_001406665.1:c.4666A>G NP_001393594.1:p.Ile1556Val missense NM_001406667.1:c.4636A>G NP_001393596.1:p.Ile1546Val missense NM_001406668.1:c.4633A>G NP_001393597.1:p.Ile1545Val missense NM_001406670.1:c.4564A>G NP_001393599.1:p.Ile1522Val missense NM_001406671.1:c.4534A>G NP_001393600.1:p.Ile1512Val missense NM_001406673.1:c.4531A>G NP_001393602.1:p.Ile1511Val missense NM_001406675.1:c.4528A>G NP_001393604.1:p.Ile1510Val missense NM_001406676.1:c.4525A>G NP_001393605.1:p.Ile1509Val missense NM_001406677.1:c.4486A>G NP_001393606.1:p.Ile1496Val missense NM_001406678.1:c.4432A>G NP_001393607.1:p.Ile1478Val missense NM_001406679.1:c.4396A>G NP_001393608.1:p.Ile1466Val missense NM_001406680.1:c.4144A>G NP_001393609.1:p.Ile1382Val missense NM_001406681.1:c.4084A>G NP_001393610.1:p.Ile1362Val missense NM_001406682.1:c.4075A>G NP_001393611.1:p.Ile1359Val missense NM_001406683.1:c.4075A>G NP_001393612.1:p.Ile1359Val missense NM_001406684.1:c.4072A>G NP_001393613.1:p.Ile1358Val missense NM_001406685.1:c.3946A>G NP_001393614.1:p.Ile1316Val missense NM_001406686.1:c.3946A>G NP_001393615.1:p.Ile1316Val missense NM_001406687.1:c.3943A>G NP_001393616.1:p.Ile1315Val missense NM_001406688.1:c.3943A>G NP_001393617.1:p.Ile1315Val missense NM_001406689.1:c.3331A>G NP_001393618.1:p.Ile1111Val missense NM_001406690.1:c.3271A>G NP_001393619.1:p.Ile1091Val missense NM_001406691.1:c.3268A>G NP_001393620.1:p.Ile1090Val missense NM_001406692.1:c.3202A>G NP_001393621.1:p.Ile1068Val missense NM_001406693.1:c.3202A>G NP_001393622.1:p.Ile1068Val missense NM_001406694.1:c.3202A>G NP_001393623.1:p.Ile1068Val missense NM_001406695.1:c.3199A>G NP_001393624.1:p.Ile1067Val missense NM_001406696.1:c.3199A>G NP_001393625.1:p.Ile1067Val missense NM_001406697.1:c.3199A>G NP_001393626.1:p.Ile1067Val missense NM_001406698.1:c.2941A>G NP_001393627.1:p.Ile981Val missense NM_021055.3:c.4615A>G NP_066399.2:p.Ile1539Val missense NR_176225.1:n.4696A>G non-coding transcript variant NR_176226.1:n.4944A>G non-coding transcript variant NR_176227.1:n.4872A>G non-coding transcript variant NR_176228.1:n.4693A>G non-coding transcript variant NR_176229.1:n.4653A>G non-coding transcript variant NC_000016.10:g.2086274A>G NC_000016.9:g.2136275A>G NG_005895.1:g.41969A>G LRG_487:g.41969A>G LRG_487t1:c.4744A>G LRG_487p1:p.Ile1582Val - Protein change
- I1067V, I1068V, I1090V, I1091V, I1111V, I1315V, I1316V, I1338V, I1358V, I1359V, I1362V, I1382V, I1466V, I1467V, I1478V, I1479V, I1496V, I1509V, I1510V, I1511V, I1512V, I1515V, I1516V, I1522V, I1526V, I1538V, I1539V, I1545V, I1546V, I1556V, I1558V, I1559V, I1581V, I1582V, I981V
- Other names
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- Canonical SPDI
- NC_000016.10:2086273:A:G
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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
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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| TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10968 | 11169 | |
Conditions - Germline
| Condition
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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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Oct 2, 2023 | RCV003464712.1 |
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
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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
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Isolated focal cortical dysplasia type II
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004206819.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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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. |
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 Jan 13, 2025
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.