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NM_000059.4(BRCA2):c.4035_4038dup (p.Val1347fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2019
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:
RCV002321184.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.4035_4038dup (p.Val1347fs)]

NM_000059.4(BRCA2):c.4035_4038dup (p.Val1347fs)

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.4035_4038dup (p.Val1347fs)
HGVS:
  • NC_000013.11:g.32338390_32338393dup
  • NG_012772.3:g.27911_27914dup
  • NM_000059.4:c.4035_4038dupMANE SELECT
  • NM_001406719.1:c.4035_4038dup
  • NM_001406720.1:c.4035_4038dup
  • NP_000050.2:p.Val1347Tyrfs
  • NP_000050.3:p.Val1347fs
  • NP_001393648.1:p.Val1347Tyrfs
  • NP_001393649.1:p.Val1347Tyrfs
  • LRG_293t1:c.4035_4038dup
  • LRG_293:g.27911_27914dup
  • LRG_293p1:p.Val1347Tyrfs
  • NC_000013.10:g.32912527_32912530dup
  • NM_000059.3:c.4035_4038dup
  • NM_000059.3:c.4035_4038dupTACT
  • NR_176251.1:n.4234_4237dup
Protein change:
V1347fs
Molecular consequence:
  • NM_000059.4:c.4035_4038dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406719.1:c.4035_4038dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406720.1:c.4035_4038dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002626244Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 22, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002626244.2

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

Description

The c.4035_4038dupTACT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of TACT at nucleotide position 4035, causing a translational frameshift with a predicted alternate stop codon (p.V1347Yfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 1, 2024