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NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000663200.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)]

NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
HGVS:
  • NC_000017.11:g.61808598G>A
  • NG_007409.2:g.59962C>T
  • NM_032043.3:c.787C>TMANE SELECT
  • NP_114432.2:p.Leu263Phe
  • NP_114432.2:p.Leu263Phe
  • LRG_300t1:c.787C>T
  • LRG_300:g.59962C>T
  • LRG_300p1:p.Leu263Phe
  • NC_000017.10:g.59885959G>A
  • NM_032043.2:c.787C>T
Protein change:
L263F
Links:
dbSNP: rs1060501776
NCBI 1000 Genomes Browser:
rs1060501776
Molecular consequence:
  • NM_032043.3:c.787C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia complementation group J
Identifiers:
MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054
Name:
Neoplasm of ovary
Synonyms:
Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000786376Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Apr 19, 2018) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in Fanconi anemia genes and the risk of esophageal cancer.

Akbari MR, Malekzadeh R, Lepage P, Roquis D, Sadjadi AR, Aghcheli K, Yazdanbod A, Shakeri R, Bashiri J, Sotoudeh M, Pourshams A, Ghadirian P, Narod SA.

Hum Genet. 2011 May;129(5):573-82. doi: 10.1007/s00439-011-0951-7. Epub 2011 Jan 30.

PubMed [citation]
PMID:
21279724

Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.

Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Gil WH, Kim SW.

Cancer Res Treat. 2016 Jul;48(3):955-61. doi: 10.4143/crt.2015.191. Epub 2016 Jan 19.

PubMed [citation]
PMID:
26790966
PMCID:
PMC4946366

Details of each submission

From Counsyl, SCV000786376.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024