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NM_000059.4(BRCA2):c.240dup (p.Phe81fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 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:
RCV003298634.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.240dup (p.Phe81fs)]

NM_000059.4(BRCA2):c.240dup (p.Phe81fs)

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.240dup (p.Phe81fs)
HGVS:
  • NC_000013.11:g.32319249dup
  • NG_012772.3:g.8770dup
  • NG_017006.2:g.1115dup
  • NM_000059.3:c.240dupA
  • NM_000059.4:c.240dupMANE SELECT
  • NP_000050.3:p.Phe81fs
  • LRG_293t1:c.240dup
  • LRG_293:g.8770dup
  • NC_000013.10:g.32893385_32893386insA
  • NC_000013.10:g.32893386dup
Protein change:
F81fs
Links:
dbSNP: rs2138705179
NCBI 1000 Genomes Browser:
rs2138705179
Molecular consequence:
  • NM_000059.4:c.240dup - 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
SCV004000661Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 17, 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, SCV004000661.2

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

Description

The c.240dupA pathogenic mutation, located in coding exon 2 of the BRCA2 gene, results from a duplication of A at nucleotide position 240, causing a translational frameshift with a predicted alternate stop codon (p.F81Ifs*20). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 29, 2024