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NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (4 submissions)
Last evaluated:
Aug 14, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000113764.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)]

NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
HGVS:
  • NC_000013.11:g.32356456A>C
  • NG_012772.3:g.45977A>C
  • NM_000059.4:c.7464A>CMANE SELECT
  • NP_000050.2:p.Arg2488Ser
  • NP_000050.3:p.Arg2488Ser
  • LRG_293t1:c.7464A>C
  • LRG_293:g.45977A>C
  • LRG_293p1:p.Arg2488Ser
  • NC_000013.10:g.32930593A>C
  • NM_000059.3:c.7464A>C
  • U43746.1:n.7692A>C
  • p.R2488S
Nucleotide change:
7692A>C
Protein change:
R2488S
Links:
dbSNP: rs80358969
NCBI 1000 Genomes Browser:
rs80358969
Molecular consequence:
  • NM_000059.4:c.7464A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000147096Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

SCV000297551Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Sep 14, 2012) 		germlineclinical testing

SCV001268231Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link,

SCV004844408All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Aug 14, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Western European, Black Dutchgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147096.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European, Black Dutch1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297551.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001268231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004844408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024