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NM_032043.3(BRIP1):c.1257G>A (p.Arg419=) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 21, 2014
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:
RCV000160350.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)]

NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)

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.1257G>A (p.Arg419=)
Other names:
p.R419R:CGG>CGA
HGVS:
  • NC_000017.11:g.61799183C>T
  • NG_007409.2:g.69377G>A
  • NM_032043.3:c.1257G>AMANE SELECT
  • NP_114432.2:p.Arg419=
  • NP_114432.2:p.Arg419=
  • LRG_300t1:c.1257G>A
  • LRG_300:g.69377G>A
  • LRG_300p1:p.Arg419=
  • NC_000017.10:g.59876544C>T
  • NM_032043.2:c.1257G>A
Links:
dbSNP: rs148429663
NCBI 1000 Genomes Browser:
rs148429663
Molecular consequence:
  • NM_032043.3:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210856GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jul 21, 2014) 		germlineclinical testing

Citation Link,

SCV001364516Leiden Open Variation Database
no assertion criteria provided
Benign
(Aug 13, 2019) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, 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 GeneDx, SCV000210856.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Leiden Open Variation Database, SCV001364516.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024