NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000163427.2

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.41276047_41276048insT
  • 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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000213973Ambry Geneticscriteria provided, single submitter
Pathogenic
(Dec 1, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000213973.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 28, 2017