NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND Breast-ovarian cancer, familial 1

Clinical significance:Likely benign (Last evaluated: Jun 2, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077111.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)]

NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)

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.2612C>G (p.Pro871Arg)
HGVS:
  • NC_000017.11:g.43092919G>C
  • NG_005905.2:g.125065C>G
  • NM_007294.3:c.2612C>G
  • NM_007294.4:c.2612C>GMANE SELECT
  • NM_007297.4:c.2471C>G
  • NM_007298.3:c.787+1825C>G
  • NM_007299.4:c.787+1825C>G
  • NM_007300.4:c.2612C>G
  • NP_009225.1:p.Pro871Arg
  • NP_009225.1:p.Pro871Arg
  • NP_009228.2:p.Pro824Arg
  • NP_009231.2:p.Pro871Arg
  • LRG_292t1:c.2612C>G
  • LRG_292:g.125065C>G
  • LRG_292p1:p.Pro871Arg
  • NC_000017.10:g.41244936G>C
  • NR_027676.2:n.2789C>G
Nucleotide change:
2731C>G
Protein change:
P824R
Links:
dbSNP: rs799917
NCBI 1000 Genomes Browser:
rs799917
Molecular consequence:
  • NM_007298.3:c.787+1825C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1825C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.2612C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2612C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2471C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2612C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2789C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000108908Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Jun 2, 2009)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108908.2

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

Last Updated: Sep 26, 2021

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