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NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)

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Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 10, 2015
Accession:
VCV000055731.5
Variation ID:
55731
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)

Allele ID
70398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43094692 (GRCh38) GRCh38 UCSC
17: 41246709 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43094692G>C
NC_000017.10:g.41246709G>C
NM_007294.4:c.839C>G MANE Select NP_009225.1:p.Ala280Gly missense
... more HGVS
Protein change
A280G, A233G
Other names
958C>G
Canonical SPDI
NC_000017.11:43094691:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00012
Links
BRCA1-HCI: BRCA1_00059
ClinGen: CA003932
dbSNP: rs80357199
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 reviewed by expert panel Aug 10, 2015 RCV000083226.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 2, 2017 RCV000162969.3
Likely benign 1 criteria provided, single submitter Jun 7, 2017 RCV000425757.1
Benign 1 criteria provided, single submitter Aug 19, 2019 RCV000758852.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001520463.1
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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
Benign
(Aug 10, 2015)
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: SCV000244413.1
Submitted: (Aug 17, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://hci-exlovd.hci.utah.edu/v…
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
Benign
(Aug 19, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887739.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (5)
Benign
(Nov 18, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000213457.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001729567.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683370.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Jun 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512282.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Mar 25, 1998)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145700.1
Submitted: (Mar 28, 2014)
Evidence details
Benign
(May 01, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115300.4
Submitted: (Dec 30, 2013)
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
A guide for functional analysis of BRCA1 variants of uncertain significance. Millot GA Human mutation 2012 PMID: 22753008
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Lindor NM Human mutation 2012 PMID: 21990134
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Easton DF American journal of human genetics 2007 PMID: 17924331
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. Burk-Herrick A Mammalian genome : official journal of the International Mammalian Genome Society 2006 PMID: 16518693
BRCA1 variants in a family study of African-American and Latina women. McKean-Cowdin R Human genetics 2005 PMID: 15726418
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.839C%3EG - - - -

Text-mined citations for rs80357199...

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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