NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236963.2

Allele description

NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs)
HGVS:
  • NC_000017.11:g.43099810dupA
  • NG_005905.2:g.118174dupT
  • NM_007294.3:c.512dupT
  • NP_009225.1:p.Gln172Thrfs
  • LRG_292t1:c.512dupT
  • LRG_292:g.118174dupT
  • LRG_292p1:p.Gln172Thrfs
  • NC_000017.10:g.41251827dupA
  • NR_027676.1:n.648dupT
  • p.I171IFS*11
Links:
dbSNP: rs587781487
NCBI 1000 Genomes Browser:
rs587781487
Molecular consequence:
  • NM_007294.3:c.512dupT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.1:n.648dupT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293092GeneDxcriteria provided, single submitter
Pathogenic
(Nov 28, 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, SCV000293092.7

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

Description

This duplication of one nucleotide in BRCA1 is denoted c.512dupT at the cDNA level and p.Gln172ThrfsX10 (Q172TfsX10) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CGGA[dupT]ACAA. The duplication causes a frameshift, which changes a Glutamine to a Threonine at codon 172, and creates a premature stop codon at position 10 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCAc.512dupT has been reported in association with breast and ovarian cancer (Mannan 2016). 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