NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 13, 2012)

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:
RCV000034758.1

Allele description [Variation Report for NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val)]

NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val)
HGVS:
  • NC_000017.11:g.43063913G>C
  • NG_005905.2:g.154071C>G
  • NM_007294.3:c.5113C>G
  • NP_009225.1:p.Leu1705Val
  • LRG_292t1:c.5113C>G
  • LRG_292:g.154071C>G
  • LRG_292p1:p.Leu1705Val
  • NC_000017.10:g.41215930G>C
  • NR_027676.1:n.5249C>G
  • p.L1705V
Protein change:
L1705V
Links:
dbSNP: 80356858
NCBI 1000 Genomes Browser:
rs80356858
Molecular consequence:
  • NM_007294.3:c.5113C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.1:n.5249C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043151Biesecker Laboratory - ClinSeq Project, NHGRI - ClinSeqno assertion criteria providedvariant of unknown significance
(Jul 13, 2012)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided572not providedresearch

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Details of each submission

From Biesecker Laboratory - ClinSeq Project, NHGRI - ClinSeq, SCV000043151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno572not provideddiscovery1not providednot providednot provided

Last Updated: Jul 15, 2016