NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 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:: RCV001222155.8

Allele description [Variation Report for NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)]

NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)

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.3382G>C (p.Glu1128Gln)

HGVS:

NC_000017.11:g.61683664C>G
NG_007409.2:g.184896G>C
NM_032043.3:c.3382G>CMANE SELECT
NP_114432.2:p.Glu1128Gln
LRG_300t1:c.3382G>C
LRG_300:g.184896G>C
NC_000017.10:g.59761025C>G
NM_032043.2:c.3382G>C

Protein change:

E1128Q

Links:

dbSNP: rs45552539

NCBI 1000 Genomes Browser:

rs45552539

Molecular consequence:

NM_032043.3:c.3382G>C - 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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Homo sapiens deltex E3 ubiquitin ligase 2 (DTX2), transcript variant 1, mRNA
Homo sapiens deltex E3 ubiquitin ligase 2 (DTX2), transcript variant 1, mRNA
gi|1934862632|ref|NM_020892.4|

Nucleotide
Alburnus belvica voucher MNCN 1333G cytochrome oxidase subunit I (COI) gene, par...
Alburnus belvica voucher MNCN 1333G cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|307090472|gb|HM560244.1|

Nucleotide
uncharacterized protein C6orf136 homolog isoform X2 [Mus musculus]
uncharacterized protein C6orf136 homolog isoform X2 [Mus musculus]
gi|569001531|ref|XP_006524940.1|

Protein
PGTG_19523 [Puccinia graminis f. sp. tritici CRL 75-36-700-3]
PGTG_19523 [Puccinia graminis f. sp. tritici CRL 75-36-700-3]
Gene ID:10534777

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001394242	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001394242

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 12, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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, SCV001394242.4

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

Description

This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1128 of the BRIP1 protein (p.Glu1128Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 920489). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 29, 2024

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