NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) AND Familial cancer of breast

Clinical significance:Pathogenic (Last evaluated: Sep 26, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000056288.6

Allele description [Variation Report for NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs)]

NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs)
Other names:
995del5
HGVS:
  • NC_000013.11:g.32331008_32331012delTCAAA
  • NG_012772.3:g.20529_20533delTCAAA
  • NM_000059.3:c.771_775delTCAAA
  • NP_000050.2:p.Asn257Lysfs
  • LRG_293t1:c.771_775delTCAAA
  • LRG_293:g.20529_20533delTCAAA
  • LRG_293p1:p.Asn257Lysfs
  • NC_000013.10:g.32905145_32905149delTCAAA
  • NM_000059.3:c.771_775del
  • NM_000059.3:c.771_775del5
  • U43746.1:n.995_999delCAAAT
  • U43746.1:n.999_1003delTCAAA
  • p.Asn257Lysfs*17
  • p.N257KFS*17
  • p.N257KfsX17
  • NM_000059.3:c.771_775delTCAAA(999del5)
Nucleotide change:
999del5
Links:
Breast Cancer Information Core (BIC) (BRCA2): 995&base_change=del CAAAT; Breast Cancer Information Core (BIC) (BRCA2): 999&base_change=del TCAAA; OMIM: 600185.0010; dbSNP: 80359671
NCBI 1000 Genomes Browser:
rs80359671
Allele Frequency:
NaN
Molecular consequence:
  • NM_000059.3:c.771_775delTCAAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
CHEK2-Related Breast Cancer
Identifiers:
MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086655GeneReviewsno assertion criteria providedpathologic
(Sep 26, 2013)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000086655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 21, 2017