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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 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:: RCV000691968.9

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)

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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Chain I, CH848.3.D0949.10.17chim.6R.DS.SOSIP.664_N133D_N138T gp120
Chain I, CH848.3.D0949.10.17chim.6R.DS.SOSIP.664_N133D_N138T gp120
gi|2491197872|pdb|8DTO|I

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000819770	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 8, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24113346, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000819770

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 8, 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

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM.

Genet Med. 2014 May;16(5):407-12. doi: 10.1038/gim.2013.160. Epub 2013 Oct 10.

PubMed [citation]

PMID:: 24113346

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, SCV000819770.7

#	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 aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1138 of the BRIP1 protein (p.Asp1138Tyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This missense change has been observed in individual(s) with breast cancer (PMID: 24113346). ClinVar contains an entry for this variant (Variation ID: 570962). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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