NM_000059.3(BRCA2):c.5631del (p.Asn1877fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 1, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000505842.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.5631del (p.Asn1877fs)]

NM_000059.3(BRCA2):c.5631del (p.Asn1877fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.5631del (p.Asn1877fs)
HGVS:
  • NC_000013.11:g.32339986del
  • NG_012772.3:g.29507del
  • LRG_293t1:c.5631del
  • LRG_293:g.29507del
  • LRG_293p1:p.Asn1877fs
  • NC_000013.10:g.32914123del
  • NM_000059.3:c.5631delC
  • p.Asn1877Lysfs*32
  • p.N1877KFS*32
Nucleotide change:
5859delC
Links:
dbSNP: rs397507357
NCBI 1000 Genomes Browser:
rs397507357

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000296614Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Nov 18, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000778883GeneDxcriteria provided, single submitter
Pathogenic
(May 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.

PubMed [citation]
PMID:
26295337
PMCID:
PMC4546651

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296614.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000778883.1

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

Description

This deletion of one nucleotide in BRCA2 is denoted c.5631delC at the cDNA level and p.Asn1877LysfsX32 (N1877KfsX32) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAAAA[delC]AACG. The deletion causes a frameshift which changes an Asparagine to a Lysine at codon 1877, and creates a premature stop codon at position 32 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.5631delC, previously reported as 5859delC, has been observed in a woman with a personal history of breast cancer (Torres-Mejia 2015) . We consider this variant to be pathogenic.

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

Last Updated: May 10, 2021

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