NM_032043.3(BRIP1):c.1140+181A>G AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 1, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000208949.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.1140+181A>G]

NM_032043.3(BRIP1):c.1140+181A>G

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.1140+181A>G

HGVS:

NC_000017.11:g.61801072T>C
NG_007409.2:g.67488A>G
NM_032043.3:c.1140+181A>GMANE SELECT
LRG_300:g.67488A>G
NC_000017.10:g.59878433T>C

Links:

dbSNP: rs181682617

NCBI 1000 Genomes Browser:

rs181682617

Molecular consequence:

NM_032043.3:c.1140+181A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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serine/threonine-protein kinase SAPK7 [Sesamum indicum]
serine/threonine-protein kinase SAPK7 [Sesamum indicum]
gi|747098246|ref|XP_011097123.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000265071	University of Washington Department of Laboratory Medicine, University of Washington	no assertion criteria provided	Likely benign (Dec 1, 2015)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265071

University of Washington Department of Laboratory Medicine, University of Washington

no assertion criteria provided

Likely benign
(Dec 1, 2015)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000265071.1

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

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

Last Updated: Dec 24, 2023

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