NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2024
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:: RCV000198324.14

Allele description [Variation Report for NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)]

NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)

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.3571A>G (p.Ile1191Val)

HGVS:

NC_000017.11:g.61683475T>C
NG_007409.2:g.185085A>G
NM_032043.3:c.3571A>GMANE SELECT
NP_114432.2:p.Ile1191Val
NP_114432.2:p.Ile1191Val
LRG_300t1:c.3571A>G
LRG_300:g.185085A>G
LRG_300p1:p.Ile1191Val
NC_000017.10:g.59760836T>C
NM_032043.2:c.3571A>G
p.I1191V

Protein change:

I1191V

Links:

dbSNP: rs761405340

NCBI 1000 Genomes Browser:

rs761405340

Molecular consequence:

NM_032043.3:c.3571A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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

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PREDICTED: Rattus norvegicus potassium sodium-activated channel subfamily T memb...
PREDICTED: Rattus norvegicus potassium sodium-activated channel subfamily T member 1 (Kcnt1), transcript variant X9, mRNA
gi|2678931711|ref|XM_006233706.5|

Nucleotide
Myh11 myosin, heavy polypeptide 11, smooth muscle [Mus musculus]
Myh11 myosin, heavy polypeptide 11, smooth muscle [Mus musculus]
Gene ID:17880

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255174	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 30, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 26921362, 28202063, 28767289, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255174

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 30, 2024)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

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

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A.

BMC Med Genomics. 2017 Feb 15;10(1):8. doi: 10.1186/s12920-017-0244-7.

PubMed [citation]

PMID:: 28202063
PMCID:: PMC5312584

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000255174.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1191 of the BRIP1 protein (p.Ile1191Val). This variant is present in population databases (rs761405340, gnomAD 0.01%). This missense change has been observed in individual(s) with breast cancer (PMID: 26921362, 28202063, 28767289). ClinVar contains an entry for this variant (Variation ID: 186989). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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 8, 2024

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