NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 2022
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:: RCV002282331.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)]

NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)

Gene:

BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)

HGVS:

NC_000017.11:g.61683634_61683635delinsAG
NG_007409.2:g.184925_184926delinsCT
NM_032043.3:c.3411_3412delinsCTMANE SELECT
NP_114432.2:p.Asp1138Tyr
NP_114432.2:p.Asp1138Tyr
LRG_300t1:c.3411_3412delinsCT
LRG_300:g.184925_184926delinsCT
LRG_300p1:p.Asp1138Tyr
NC_000017.10:g.59760995_59760996delinsAG
NM_032043.2:c.3411_3412delTGinsCT
NM_032043.2:c.3411_3412delinsCT

Protein change:

D1138Y

Links:

dbSNP: rs1555572620

NCBI 1000 Genomes Browser:

rs1555572620

Molecular consequence:

NM_032043.3:c.3411_3412delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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GPL29796[RGSE] (2)
GEO DataSets
Gene expression analysis in OLETF, a type 2 diabetic rats, and LETO, a non-diabe...
Gene expression analysis in OLETF, a type 2 diabetic rats, and LETO, a non-diabetic control rats
Gene expression analysis in OLETF, a type 2 diabetic rats, and LETO, a non-diabetic control rats

BioProject
pleckstrin homology domain-containing family B member 1 isoform X1 [Mus musculus...
pleckstrin homology domain-containing family B member 1 isoform X1 [Mus musculus]
gi|568950783|ref|XP_006507969.1|

Protein
SRX15255224 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570964	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 21, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25980754, 26689913, 24113346 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002570964

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 21, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.

Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

PubMed [citation]

PMID:: 25980754
PMCID:: PMC4550537

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]

PMID:: 26689913
PMCID:: PMC4703835

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002570964.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Variant summary: BRIP1 c.3411_3412delinsCT (p.Asp1138Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of at least 5.3e-05 in 150918 control chromosomes (gnomAD v3.1.2). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. p.Asp1138Tyr has been reported in the literature in individuals being tested for or affected with cancer, including Lynch syndrome and Hereditary Breast And Ovarian Cancer Syndrome (e.g. Mauer_2013, Lu_2015, Yurgelun_2015). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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