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NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser)

Variation ID: Help
37690
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely benign(4);Uncertain significance(3)
Last evaluated:
Mar 9, 2018
Number of submission(s):
7
Condition(s):
  • Breast-ovarian cancer, familial 1 [MedGen - OMIM]
  • Hereditary cancer-predisposing syndrome [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser)

Allele ID:
46246
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.3
Genomic location:
  • Chr17: 43095855 (on Assembly GRCh38)
  • Chr17: 41247872 (on Assembly GRCh37)
Other names:
  • p.A221S:GCA>TCA
  • 780G>T
Protein change:
A221S
HGVS:
  • NG_005905.2:g.122129G>T
  • NM_007294.3:c.661G>T
  • NP_009225.1:p.Ala221Ser
  • NC_000017.11:g.43095855C>A (GRCh38)
  • LRG_292t1:c.661G>T
  • U14680.1:n.780G>T
  • NR_027676.1:n.797G>T
  • NC_000017.10:g.41247872C>A (GRCh37)
  • LRG_292p1:p.Ala221Ser
  • LRG_292:g.122129G>T
Links:
NCBI 1000 Genomes Browser:
rs80357088
Molecular consequence:
  • NM_007294.3:c.661G>T: missense variant SO:0001583
  • NR_027676.1:n.797G>T: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.00008 (A)
  • ExAC 0.00001 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely benign
(Aug 29, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000210081.11
    Likely benign
    (Mar 9, 2018)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germlineAmbry GeneticsSCV000216167.3
    Uncertain significance
    (Aug 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000489036.1
    Uncertain significance
    (Jul 20, 2017)
    criteria provided, single submitter
    clinical testinggermlineQuest Diagnostics Nichols Institute San Juan CapistranoSCV000600432.1
    Likely benign
    (Apr 8, 2015)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      ColorSCV000683341.1
      Likely benign
      (Jan 8, 2013)

      History

      no assertion criteria providedclinical testinggermline
        Sharing Clinical Reports Project (SCRP)SCV000053876.4
        Uncertain significance
        (May 29, 2002)
        no assertion criteria providedclinical testinggermline
          Breast Cancer Information Core (BIC) (BRCA1)SCV000145647.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided7germline, unknownWestern Europeannot provided
          Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
          Breast Cancer Information Core (BIC) (BRCA1)not provided2germlineWestern Europeannot providednot providednot provided
          Colornot providednot providedgermlinenot providednot providednot providednot provided
          Counsylnot providednot providedunknownnot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
          Quest Diagnostics Nichols Institute San Juan Capistranonot providednot providedgermlinenot providednot providednot provided
          Sharing Clinical Reports Project (SCRP)not provided4germlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Nov 3, 2018