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NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 15, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000130057.7
Variation ID:
130057
Description:
single nucleotide variant
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NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)

Allele ID
135503
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42404933 (GRCh38) GRCh38 UCSC
17: 40556951 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40556951C>T
NC_000017.11:g.42404933C>T
NG_015845.1:g.23388G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42404932:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01837 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00434
Exome Aggregation Consortium (ExAC) 0.00553
1000 Genomes Project 0.01837
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02030
The Genome Aggregation Database (gnomAD) 0.01696
Trans-Omics for Precision Medicine (TOPMed) 0.01873
Links
ClinGen: CA154819
dbSNP: rs112332573
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000965383.4
Benign 2 criteria provided, single submitter Dec 31, 2019 RCV000118084.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000324266.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CAVIN1 - - GRCh38
GRCh37
99 108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476795.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001112649.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Oct 07, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001751659.1
Submitted: (Jul 15, 2021)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Lipodystrophy, congenital generalized, type 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000402881.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000152416.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs112332573...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 23, 2021