NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)]

NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)
  • NC_000017.11:g.43094148A>T
  • NG_005905.2:g.123836T>A
  • NM_007294.3:c.1383T>A
  • NM_007294.4:c.1383T>AMANE SELECT
  • NM_007297.4:c.1242T>A
  • NM_007298.3:c.787+596T>A
  • NM_007299.4:c.787+596T>A
  • NM_007300.4:c.1383T>A
  • NP_009225.1:p.Phe461Leu
  • NP_009225.1:p.Phe461Leu
  • NP_009228.2:p.Phe414Leu
  • NP_009231.2:p.Phe461Leu
  • LRG_292t1:c.1383T>A
  • LRG_292:g.123836T>A
  • LRG_292p1:p.Phe461Leu
  • NC_000017.10:g.41246165A>T
  • NM_007294.4:c.1383T>A
  • NR_027676.2:n.1560T>A
  • P38398:p.Phe461Leu
  • U14680.1:n.1502T>A
  • p.F461L
Protein change:
UniProtKB: P38398#VAR_007765; dbSNP: rs56046357
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_007298.3:c.787+596T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+596T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.1383T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1383T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1242T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1383T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.1560T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000292793GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 19, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000292793.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal or family history of breast, prostate and other cancers and identified in an individual who had BRCA1/2 testing (Katagiri 1999, Judkins 2005, Pugh 2009); This variant is associated with the following publications: (PMID: 22476429, 31131967, 9609997, 25637381, 19638463, 15385441, 16267036, 16518693, 12531920, 15235020)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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