NM_007294.3(BRCA1):c.5476C>A (p.Gln1826Lys)

Variation ID: Help
143005
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Apr 27, 2014
Number of submission(s):
1
Condition(s):
Hereditary cancer-predisposing syndrome[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_007294.3(BRCA1):c.5476C>A (p.Gln1826Lys)

Allele ID:
152719
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
  • Chr17: 43045794 (on Assembly GRCh38)
  • Chr17: 41197811 (on Assembly GRCh37)
Protein change:
Q1826K
HGVS:
  • NG_005905.2:g.172190C>A
  • NM_007294.3:c.5476C>A
  • NP_009225.1:p.Gln1826Lys
  • NC_000017.11:g.43045794G>T (GRCh38)
  • LRG_292t1:c.5476C>A
  • NR_027676.1:n.5612C>A
  • NC_000017.10:g.41197811G>T (GRCh37)
  • LRG_292p1:p.Gln1826Lys
  • LRG_292:g.172190C>A
Links:
dbSNP: 587782887
NCBI 1000 Genomes Browser:
rs587782887
Molecular consequence:
  • NM_007294.3:c.5476C>A: missense variant SO:0001583
  • NR_027676.1:n.5612C>A: non-coding transcript variant SO:0001619

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Apr 27, 2014)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry GeneticsSCV000187621.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 26, 2017