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NM_007299.4(BRCA1):c.212+21G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jun 30, 2017)
Last evaluated:
Nov 7, 2016
Accession:
VCV000125612.1
Variation ID:
125612
Description:
single nucleotide variant
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NM_007299.4(BRCA1):c.212+21G>A

Allele ID
131150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43106435 (GRCh38) GRCh38 UCSC
17: 41258452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41258452C>T
NC_000017.11:g.43106435C>T
NM_007297.4:c.71+21G>A
... more HGVS
Protein change
-
Other names
IVS5+21G>A
Canonical SPDI
NC_000017.11:43106434:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
Breast Cancer Information Core (BIC) (BRCA1): 331+21&base_change=G to A
ClinGen: CA001409
dbSNP: rs80358147
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Sep 12, 2016 RCV000112020.2
Likely benign 1 criteria provided, single submitter Nov 7, 2016 RCV000506766.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
11971 12138

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 12, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000489277.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely benign
(Nov 07, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000602697.1
Submitted: (Jun 30, 2017)
Evidence details
Uncertain significance
(Jul 19, 2006)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144664.1
Submitted: (Mar 28, 2014)
Evidence details

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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Title Author Journal Year Link
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Houdayer C Human mutation 2012 PMID: 22505045

Text-mined citations for rs80358147...

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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 Apr 01, 2021