NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000478017.1

Allele description

NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs)

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.66dupA (p.Glu23Argfs)
Other names:
185_186insA
HGVS:
  • NC_000017.11:g.43124031dupT
  • NG_005905.2:g.93953dupA
  • NM_007294.3:c.66dupA
  • NM_007297.3:c.-22dupA
  • NP_009225.1:p.Glu23Argfs
  • LRG_292t1:c.66dupA
  • LRG_292:g.93953dupA
  • LRG_292p1:p.Glu23Argfs
  • NC_000017.10:g.41276048dupT
  • NG_005905.2:g.93953_93954insA
  • NM_007294.3:c.66_67insA
  • NM_007294.3:c.66dup
  • NR_027676.1:n.227dupA
  • U14680.1:n.185_186insA
  • p.E23Rfs*18
  • p.Glu23Argfs*18
Nucleotide change:
185insA
Links:
Breast Cancer Information Core (BIC) (BRCA1): 185&base_change=ins A; dbSNP: rs80357713; dbSNP: rs80357783
NCBI 1000 Genomes Browser:
rs80357713
Molecular consequence:
  • NM_007297.3:c.-22dupA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_007294.3:c.66dupA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.1:n.227dupA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000564708GeneDxcriteria provided, single submitter
Pathogenic
(Sep 27, 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, SCV000564708.1

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

Description

This duplication of one nucleotide in BRCA1 is denoted c.66dupA at the cDNA level and p.Glu23ArgfsX18 (E23RfsX18) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TCTT[A]GAGT. The duplication causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 23, and creates a premature stop codon at position 18 of the new reading frame. This variant, also known as BRCA1 185dupA or 185insA, has been identified in individuals with a personal and/or family history of breast and/or ovarian cancer (Kroiss 2005, Thirthagiri 2008, Noel 2010, Ginsburg 2011, Kim 2012, Peixoto 2014), and 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: May 1, 2017