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NM_000059.4(BRCA2):c.7340del (p.Asn2447fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely 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:
RCV002267168.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7340del (p.Asn2447fs)]

NM_000059.4(BRCA2):c.7340del (p.Asn2447fs)

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.7340del (p.Asn2447fs)
HGVS:
  • NC_000013.11:g.32355193del
  • NG_012772.3:g.44714del
  • NM_000059.4:c.7340delMANE SELECT
  • NP_000050.3:p.Asn2447fs
  • LRG_293:g.44714del
  • NC_000013.10:g.32929330del
  • NM_000059.4:c.7340delAMANE SELECT
Protein change:
N2447fs
Links:
dbSNP: rs786204281
NCBI 1000 Genomes Browser:
rs786204281
Molecular consequence:
  • NM_000059.4:c.7340del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549115Genomic Center, National Cancer Institute
no assertion criteria provided
Likely 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, SCV002549115.1

#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