U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Feb 5, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000113252.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)]

NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)

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.3962A>G (p.Asp1321Gly)
Other names:
p.D1321G:GAT>GGT
HGVS:
  • NC_000013.11:g.32338317A>G
  • NG_012772.3:g.27838A>G
  • NM_000059.4:c.3962A>GMANE SELECT
  • NP_000050.2:p.Asp1321Gly
  • NP_000050.3:p.Asp1321Gly
  • LRG_293t1:c.3962A>G
  • LRG_293:g.27838A>G
  • LRG_293p1:p.Asp1321Gly
  • NC_000013.10:g.32912454A>G
  • NM_000059.3:c.3962A>G
  • U43746.1:n.4190A>G
Protein change:
D1321G
Links:
dbSNP: rs80358645
NCBI 1000 Genomes Browser:
rs80358645
Molecular consequence:
  • NM_000059.4:c.3962A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146346Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Dec 23, 2003) 		germlineclinical testing

SCV004243617BRCAlab, Lund University
no assertion criteria provided
Likely benign
(Mar 2, 2020) 		germlineclinical testing

SCV004845246All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Feb 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot provided108544not 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), SCV000146346.1

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

From BRCAlab, Lund University, SCV004243617.1

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

From All of Us Research Program, National Institutes of Health, SCV004845246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided3not providednot providednot provided

Last Updated: Nov 10, 2024