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NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002267157.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer)]

NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer)
HGVS:
  • NC_000013.11:g.32336972del
  • NG_012772.3:g.26493del
  • NM_000059.4:c.2617delMANE SELECT
  • NP_000050.3:p.Lys872_Ile873insTer
  • LRG_293:g.26493del
  • NC_000013.10:g.32911109del
  • NM_000059.4:c.2617delAMANE SELECT
Links:
dbSNP: rs398122748
NCBI 1000 Genomes Browser:
rs398122748
Molecular consequence:
  • NM_000059.4:c.2617del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002549104Genomic Center, National Cancer Institute
no assertion criteria provided
Pathogenicgermlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV002549104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedwhole bloodnot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024