U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.2957dupA AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 21, 2018
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:
RCV000160274.5

Allele description

NM_000059.4(BRCA2):c.2957dupA

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2957dupA
HGVS:
  • NC_000013.11:g.32337312dup
  • NG_012772.3:g.26833dup
  • NM_000059.4:c.2957dupAMANE SELECT
  • LRG_293t1:c.2957dup
  • LRG_293:g.26833dup
  • LRG_293p1:p.Asn986fs
  • NC_000013.10:g.32911442_32911443insA
  • NC_000013.10:g.32911449dup
  • NM_000059.3:c.2951dupA
  • NM_000059.3:c.2957dup
  • NM_000059.3:c.2957dupA
  • U43746.1:n.3185_3186insA
  • p.Asn986Lysfs*2
  • p.N986KfsX2
Nucleotide change:
3185insA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 3185&base_change=ins A; dbSNP: rs80359365
NCBI 1000 Genomes Browser:
rs80359365

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210727GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Dec 21, 2018)
germlineclinical testing

Citation Link,

SCV000600537Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics Criteria)
Pathogenic
(Aug 23, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000210727.9

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

Description

This duplication of one nucleotide in BRCA2 is denoted c.2957dupA at the cDNA level and p.Asn986LysfsX2 (N986KfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAAAA[dupA]TAAT. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 986, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.2957dupA, previously reported as 3185insA, has been reported as deleterious in association with breast and/or ovarian cancer (van der Hout 2006, Tea 2014, Finch 2015). We consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600537.2

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

Last Updated: Sep 23, 2021