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NM_000059.4(BRCA2):c.7891_7900dup (p.Met2634fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2023
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:
RCV004522587.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7891_7900dup (p.Met2634fs)]

NM_000059.4(BRCA2):c.7891_7900dup (p.Met2634fs)

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.7891_7900dup (p.Met2634fs)
HGVS:
  • NC_000013.11:g.32362608_32362617dup
  • NG_012772.3:g.52129_52138dup
  • NM_000059.4:c.7891_7900dupMANE SELECT
  • NM_001406719.1:c.7795_7804dup
  • NM_001406720.1:c.7891_7900dup
  • NM_001406721.1:c.2959_2968dup
  • NM_001406722.1:c.1474_1483dup
  • NP_000050.2:p.Met2634Thrfs
  • NP_000050.3:p.Met2634fs
  • NP_001393648.1:p.Met2602fs
  • NP_001393649.1:p.Met2634fs
  • NP_001393650.1:p.Met990fs
  • NP_001393651.1:p.Met495fs
  • LRG_293t1:c.7891_7900dup
  • LRG_293:g.52129_52138dup
  • LRG_293p1:p.Met2634Thrfs
  • NC_000013.10:g.32936745_32936754dup
  • NM_000059.3:c.7891_7900dup
  • NM_000059.3:c.7891_7900dupCTGGCAGCTA
  • NR_176251.1:n.8090_8099dup
Protein change:
M2602fs
Molecular consequence:
  • NM_000059.4:c.7891_7900dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406719.1:c.7795_7804dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406720.1:c.7891_7900dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406721.1:c.2959_2968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406722.1:c.1474_1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176251.1:n.8090_8099dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005030270Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 8, 2023) 		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, SCV005030270.1

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

Description

The c.7891_7900dup10 variant, located in coding exon 16 of the BRCA2 gene, results from a duplication of 10 nucleotides (CTGGCAGCTA) at position 7891 to 7900, causing a translational frameshift with a predicted alternate stop codon (p.M2634Tfs*10). 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: May 7, 2024