NM_007294.4(BRCA1):c.2712A>G (p.Glu904=) AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000944969.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2712A>G (p.Glu904=)]

NM_007294.4(BRCA1):c.2712A>G (p.Glu904=)

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.2712A>G (p.Glu904=)
HGVS:
  • NC_000017.11:g.43092819T>C
  • NG_005905.2:g.125165A>G
  • NM_007294.3:c.2712A>G
  • NM_007294.4:c.2712A>GMANE SELECT
  • NM_007297.4:c.2571A>G
  • NM_007298.3:c.788-1787A>G
  • NM_007299.4:c.788-1787A>G
  • NM_007300.4:c.2712A>G
  • NP_009225.1:p.Glu904=
  • NP_009225.1:p.Glu904=
  • NP_009228.2:p.Glu857=
  • NP_009231.2:p.Glu904=
  • LRG_292t1:c.2712A>G
  • LRG_292:g.125165A>G
  • LRG_292p1:p.Glu904=
  • NC_000017.10:g.41244836T>C
  • NR_027676.2:n.2889A>G
Links:
dbSNP: rs1057522242
NCBI 1000 Genomes Browser:
rs1057522242
Molecular consequence:
  • NM_007298.3:c.788-1787A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1787A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2889A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.2712A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.2712A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.2571A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.2712A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001090953Invitaecriteria provided, single submitter
Likely benign
(Aug 26, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001550881Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001090953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001550881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

Last Updated: May 26, 2021

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