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NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 19, 2022
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:
RCV001825104.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)]

NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
HGVS:
  • NC_000013.11:g.32362650_32362660delinsCTATTAGCA
  • NG_012772.3:g.52171_52181delinsCTATTAGCA
  • NM_000059.4:c.7933_7943delinsCTATTAGCAMANE SELECT
  • NP_000050.3:p.Arg2645fs
  • LRG_293t1:c.7933_7943delinsCTATTAGCA
  • LRG_293:g.52171_52181delinsCTATTAGCA
  • NC_000013.10:g.32936787_32936797delinsCTATTAGCA
  • NM_000059.3:c.7933_7943delinsCTATTAGCA
Protein change:
R2645fs
Links:
dbSNP: rs2137577594
NCBI 1000 Genomes Browser:
rs2137577594
Molecular consequence:
  • NM_000059.4:c.7933_7943delinsCTATTAGCA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074329Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 19, 2022) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002074329.1

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

Description

Variant summary: BRCA2 c.7933_7943delinsCTATTAGCA (p.Arg2645LeufsX16) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251304 control chromosomes. To our knowledge, no occurrence of c.7933_7943delinsCTATTAGCA in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 8, 2024