NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001174651.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)]

NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)
HGVS:
  • NC_000017.11:g.43092137T>C
  • NG_005905.2:g.125847A>G
  • NM_007294.3:c.3394A>G
  • NM_007294.4:c.3394A>GMANE SELECT
  • NM_007297.4:c.3253A>G
  • NM_007298.3:c.788-1105A>G
  • NM_007299.4:c.788-1105A>G
  • NM_007300.4:c.3394A>G
  • NP_009225.1:p.Asn1132Asp
  • NP_009225.1:p.Asn1132Asp
  • NP_009228.2:p.Asn1085Asp
  • NP_009231.2:p.Asn1132Asp
  • LRG_292t1:c.3394A>G
  • LRG_292:g.125847A>G
  • LRG_292p1:p.Asn1132Asp
  • NC_000017.10:g.41244154T>C
  • NM_007300.3:c.3394A>G
  • NR_027676.2:n.3571A>G
  • p.N1132D
Protein change:
N1085D
Links:
dbSNP: rs530464947
NCBI 1000 Genomes Browser:
rs530464947
Molecular consequence:
  • NM_007298.3:c.788-1105A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1105A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.3394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3253A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.3571A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001337865Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jan 30, 2020)
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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001337865.1

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

Description

Variant summary: BRCA1 c.3394A>G (p.Asn1132Asp) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 250786 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3394A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=3) and as likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 14, 2021

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