NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 10, 2023
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:: RCV001369002.9

Allele description [Variation Report for NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)]

NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)

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.3266C>G (p.Ser1089Cys)

HGVS:

NC_000017.11:g.61683780G>C
NG_007409.2:g.184780C>G
NM_032043.3:c.3266C>GMANE SELECT
NP_114432.2:p.Ser1089Cys
NP_114432.2:p.Ser1089Cys
LRG_300t1:c.3266C>G
LRG_300:g.184780C>G
LRG_300p1:p.Ser1089Cys
NC_000017.10:g.59761141G>C
NM_032043.2:c.3266C>G

Protein change:

S1089C

Links:

dbSNP: rs761278503

NCBI 1000 Genomes Browser:

rs761278503

Molecular consequence:

NM_032043.3:c.3266C>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

Recent activity

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BioProject Links for Protein (Select 1917203715) (2)
BioProject
PMC Links for Taxonomy (Select 316279) (8)
PMC
Homo sapiens 12 BAC RP11-502N13 (Roswell Park Cancer Institute Human BAC Library...
Homo sapiens 12 BAC RP11-502N13 (Roswell Park Cancer Institute Human BAC Library) complete sequence
gi|11067199|gnl|bcmhgsc|project_hmf lor|gb|AC008114.25|

Nucleotide
PREDICTED: Homo sapiens formin binding protein 4 (FNBP4), transcript variant X5,...
PREDICTED: Homo sapiens formin binding protein 4 (FNBP4), transcript variant X5, mRNA
gi|2462497602|ref|XM_054332409.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001565428	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 10, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31214711, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001565428

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 10, 2023)

germline

clinical testing

PubMed (2)
[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

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.

J Natl Cancer Inst. 2020 Apr 1;112(4):369-376. doi: 10.1093/jnci/djz124.

PubMed [citation]

PMID:: 31214711
PMCID:: PMC7156928

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001565428.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1089 of the BRIP1 protein (p.Ser1089Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with prostate cancer (PMID: 31214711). ClinVar contains an entry for this variant (Variation ID: 219865). 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: Nov 3, 2024

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