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NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) AND Fanconi anemia complementation group J

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 6, 2016
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:
RCV000410562.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)]

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
Other names:
p.E1126D:GAA>GAC
HGVS:
  • NC_000017.11:g.61683668T>G
  • NG_007409.2:g.184892A>C
  • NM_032043.3:c.3378A>CMANE SELECT
  • NP_114432.2:p.Glu1126Asp
  • NP_114432.2:p.Glu1126Asp
  • LRG_300t1:c.3378A>C
  • LRG_300:g.184892A>C
  • LRG_300p1:p.Glu1126Asp
  • NC_000017.10:g.59761029T>G
  • NM_032043.2:c.3378A>C
  • NM_032043.3:c.3378A>C
  • p.E1126D
Protein change:
E1126D
Links:
dbSNP: rs145855459
NCBI 1000 Genomes Browser:
rs145855459
Molecular consequence:
  • NM_032043.3:c.3378A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia complementation group J
Identifiers:
MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489879Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jul 6, 2016) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, et al.

J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

PubMed [citation]
PMID:
26921362
PMCID:
PMC4938802

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, Gharbiah M, Malek JA, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chouchane L, Stadler DJ, Mezey JG, Crystal RG.

Hum Mutat. 2014 Jan;35(1):105-16. doi: 10.1002/humu.22460. Epub 2013 Nov 10.

PubMed [citation]
PMID:
24123366
PMCID:
PMC3908915
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000489879.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024