NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) AND Breast-ovarian cancer, familial 1

Clinical significance:Benign (Last evaluated: Jun 18, 2019)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000111600.2

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

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

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.1383T>A (p.Phe461Leu)
HGVS:
  • 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:
F414L
Links:
UniProtKB: P38398#VAR_007765; dbSNP: rs56046357
NCBI 1000 Genomes Browser:
rs56046357
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]
Observations:
2

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000144072Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Nov 25, 2004)
germlineclinical testing

SCV001161582Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Jun 18, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161582.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000244

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

Support Center