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NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)

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Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 29, 2017
Accession:
VCV000185689.10
Variation ID:
185689
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)

Allele ID
185065
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43094112 (GRCh38) GRCh38 UCSC
17: 41246129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43094112G>A
NC_000017.10:g.41246129G>A
NM_007294.4:c.1419C>T MANE Select NP_009225.1:p.Asn473= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:43094111:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA000956
dbSNP: rs777228325
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 reviewed by expert panel Jun 29, 2017 RCV000241043.3
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 23, 2018 RCV000165155.2
Likely benign 1 criteria provided, single submitter Oct 5, 2020 RCV000229396.6
Likely benign 1 criteria provided, single submitter Aug 21, 2019 RCV000587123.2
Likely benign 1 criteria provided, single submitter Sep 10, 2020 RCV001284533.1
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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
12270 12437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 29, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000578426.2
Submitted: (Jun 29, 2017)
Evidence details
Comment:
Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Likely benign
(Jun 20, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000785261.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (1)
Likely benign
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698864.2
Submitted: (Sep 24, 2019)
Evidence details
Likely benign
(Jul 07, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215866.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470372.1
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (1)
Likely benign
(Feb 23, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000909383.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000289744.7
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(May 01, 2016)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Department of Medical Genetics, University Hospital of North Norway
Accession: SCV000301430.1
Submitted: (Sep 20, 2016)
Evidence details
Publications
PubMed (1)

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
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. Jarhelle E Familial cancer 2017 PMID: 27495310

Text-mined citations for rs777228325...

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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 Jun 14, 2021