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NM_000059.4(BRCA2):c.9945dup (p.Glu3316fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2021
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:
RCV001816829.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.9945dup (p.Glu3316fs)]

NM_000059.4(BRCA2):c.9945dup (p.Glu3316fs)

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.9945dup (p.Glu3316fs)
HGVS:
  • NC_000013.11:g.32398458dup
  • NG_012772.3:g.87979dup
  • NM_000059.4:c.9945dupMANE SELECT
  • NP_000050.2:p.Glu3316fs
  • NP_000050.3:p.Glu3316fs
  • LRG_293t1:c.9945dup
  • LRG_293:g.87979dup
  • LRG_293p1:p.Glu3316fs
  • NC_000013.10:g.32972589_32972590insA
  • NC_000013.10:g.32972595dup
  • NM_000059.3:c.9945dup
  • NM_000059.3:c.9945dupA
Protein change:
E3316fs
Links:
dbSNP: rs431825381
NCBI 1000 Genomes Browser:
rs431825381
Molecular consequence:
  • NM_000059.4:c.9945dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002065844Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 27, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genetic Services Laboratory, University of Chicago, SCV002065844.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

DNA sequence analysis of the BRCA2 gene demonstrated a single base pair duplication in exon 27 (last exon), c.9945dup. This sequence change results in an amino acid frameshift and creates a premature stop codon 11 amino acids downstream of the variant, p.Glu3316Argfs*11. This sequence change is not expected to result in nonsense-mediated decay, but disrupt the last 103 amino acids of the BRCA2 protein. This variant does not appear to have been previously described in individual with BRCA2-related disorders. It is absent in the gnomAD population database. The functional significance of this sequence change is not known at present.

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

Last Updated: Sep 29, 2024