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NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jun 17, 2021)
Last evaluated:
Jun 10, 2021
Accession:
VCV000091594.9
Variation ID:
91594
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)

Allele ID
97071
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43092919 (GRCh38) GRCh38 UCSC
17: 41244936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41244936G>C
NC_000017.11:g.43092919G>C
NM_007294.4:c.2612C>G MANE Select NP_009225.1:p.Pro871Arg missense
... more HGVS
Protein change
P871R, P824R
Other names
2731C>G
Canonical SPDI
NC_000017.11:43092918:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.45607 (G)

Allele frequency
-
Links
ClinGen: CA001719
dbSNP: rs799917
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 23, 2019 RCV000221093.2
Likely benign 1 criteria provided, single submitter Jul 27, 2020 RCV000463451.5
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 10, 2021 RCV000442717.5
Likely benign 1 no assertion criteria provided Jun 2, 2009 RCV000077111.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Dec 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600296.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (1)
Likely benign
(Aug 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515312.4
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
(Oct 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274433.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.P871R variant (also known as c.2612C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide … (more)
Likely benign
(Jul 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000560221.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363818.3
Submitted: (Jun 17, 2021)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: BRCA1 c.2612C>G (p.Pro871Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Likely benign
(Jun 02, 2009)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000108908.2
Submitted: (Jun 26, 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
Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients. Cecener G Cancer genetics 2020 PMID: 31706072
Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women. Sirisena ND Journal of breast cancer 2018 PMID: 29963112
New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families. Cherdyntseva N Cancer biomarkers : section A of Disease markers 2017 PMID: 27983536
Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. Loke J Human molecular genetics 2015 PMID: 25652403

Text-mined citations for rs799917...

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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 22, 2021