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NM_002875.5(RAD51):c.456A>T (p.Gly152=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 20, 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:
RCV002342107.2

Allele description [Variation Report for NM_002875.5(RAD51):c.456A>T (p.Gly152=)]

NM_002875.5(RAD51):c.456A>T (p.Gly152=)

Gene:
RAD51:RAD51 recombinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_002875.5(RAD51):c.456A>T (p.Gly152=)
HGVS:
  • NC_000015.10:g.40718825A>T
  • NG_012120.1:g.28665A>T
  • NM_001164269.2:c.459A>T
  • NM_001164270.2:c.456A>T
  • NM_002875.5:c.456A>TMANE SELECT
  • NM_133487.4:c.459A>T
  • NP_001157741.1:p.Gly153=
  • NP_001157742.1:p.Gly152=
  • NP_002866.2:p.Gly152=
  • NP_597994.3:p.Gly153=
  • LRG_313t1:c.456A>T
  • LRG_313:g.28665A>T
  • LRG_313p1:p.Gly152=
  • NC_000015.9:g.41011023A>T
  • NM_002875.4:c.456A>T
Molecular consequence:
  • NM_001164269.2:c.459A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164270.2:c.456A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002875.5:c.456A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133487.4:c.459A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002640245Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 20, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002640245.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024