NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: May 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:
RCV000049087.4

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: rs80357783
NCBI 1000 Genomes Browser:
rs80357783
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)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MedGen: C0677776; Orphanet: 145
Prevalence:
http://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.ncbi.nlm.nih.gov/books/NBK1247

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000077100Invitaecriteria provided, single submitter
Pathogenic
(May 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Invitae, SCV000077100.4

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

Description

This sequence change inserts 1 nucleotide in exon 2 of the BRCA1 mRNA (c.66dupA), causing a frameshift at codon 23. This creates a premature translational stop signal (p.Glu23Argfs*18) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature in individuals and families with breast and/or ovarian cancer (PMID: 8595420, 12181777, 16998791, 20189727, 24916970). This variant is also known as 185insA in the literature. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jul 5, 2017