NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) AND Fanconi anemia, complementation group J

Clinical significance:Benign (Last evaluated: May 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410926.1

Allele description [Variation Report for NM_032043.2(BRIP1):c.577G>A (p.Val193Ile)]

NM_032043.2(BRIP1):c.577G>A (p.Val193Ile)

Gene:
BRIP1:BRCA1 interacting protein C-terminal helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile)
Other names:
p.V193I:GTA>ATA
HGVS:
  • NC_000017.11:g.61847151C>T
  • NG_007409.2:g.21409G>A
  • NM_032043.2:c.577G>A
  • NP_114432.2:p.Val193Ile
  • LRG_300t1:c.577G>A
  • LRG_300:g.21409G>A
  • LRG_300p1:p.Val193Ile
  • NC_000017.10:g.59924512C>T
  • p.V193I
Protein change:
V193I
Links:
dbSNP: rs4988346
NCBI 1000 Genomes Browser:
rs4988346
Molecular consequence:
  • NM_032043.2:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia, complementation group J (FANCJ)
Identifiers:
MedGen: C1836860; Orphanet: 84; OMIM: 609054

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000489805Counsylcriteria provided, single submitter
Benign
(May 25, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

Wong MW, Nordfors C, Mossman D, Pecenpetelovska G, Avery-Kiejda KA, Talseth-Palmer B, Bowden NA, Scott RJ.

Breast Cancer Res Treat. 2011 Jun;127(3):853-9. doi: 10.1007/s10549-011-1443-0. Epub 2011 Mar 16.

PubMed [citation]
PMID:
21409391

Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.

Ray AM, Zuhlke KA, Johnson GR, Levin AM, Douglas JA, Lange EM, Cooney KA.

Br J Cancer. 2009 Dec 15;101(12):2043-7. doi: 10.1038/sj.bjc.6605433. Epub 2009 Nov 24.

PubMed [citation]
PMID:
19935797
PMCID:
PMC2795448

Details of each submission

From Counsyl, SCV000489805.1

#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: Dec 1, 2019

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