NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2019
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:: RCV001194745.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)]

NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)

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.1352C>T (p.Ala451Val)

HGVS:

NC_000017.11:g.61793718G>A
NG_007409.2:g.74842C>T
NM_032043.3:c.1352C>TMANE SELECT
NP_114432.2:p.Ala451Val
LRG_300t1:c.1352C>T
LRG_300:g.74842C>T
NC_000017.10:g.59871079G>A
NM_032043.2:c.1352C>T

Protein change:

A451V

Links:

dbSNP: rs771861055

NCBI 1000 Genomes Browser:

rs771861055

Molecular consequence:

NM_032043.3:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001364519	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Aug 13, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001364519

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Aug 13, 2019)

germline

curation

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	yes	not provided	not provided	not provided	not provided	not provided	curation

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

Details of each submission

From Leiden Open Variation Database, SCV001364519.1

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

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

#	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: Sep 29, 2024

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