NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTGTAG (p.Lys2404Cysfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255333.1

Allele description

NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTGTAG (p.Lys2404Cysfs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTGTAG (p.Lys2404Cysfs)
HGVS:
  • NC_000013.11:g.32355063_32355069delAAAGTCTinsTGTAG
  • NG_012772.3:g.44584_44590delAAAGTCTinsTGTAG
  • NM_000059.3:c.7210_7216delAAAGTCTinsTGTAG
  • NP_000050.2:p.Lys2404Cysfs
  • LRG_293t1:c.7210_7216delAAAGTCTinsTGTAG
  • LRG_293:g.44584_44590delAAAGTCTinsTGTAG
  • LRG_293p1:p.Lys2404Cysfs
  • NC_000013.10:g.32929200_32929206delAAAGTCTinsTGTAG
  • NM_000059.3:c.7210_7216delinsTGTAG
  • p.(Lys2404CysfsTer7)
Links:
dbSNP: rs397507904
NCBI 1000 Genomes Browser:
rs397507904
Molecular consequence:
  • NM_000059.3:c.7210_7216delAAAGTCTinsTGTAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322533GeneDxcriteria provided, single submitter
Pathogenic
(Jan 20, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000322533.6

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

Description

This combined deletion and insertion is denoted BRCA2 c.7210_7216delAAAGTCTinsTGTAG at the cDNA level and p.Lys2404CysfsX7 (K2404CfsX7) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is AACC[AAAGTCT][TGTAG]TTGT. The variant causes a frameshift, which changes a Lysine to a Cysteine at codon 2404, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

Last Updated: Aug 30, 2018