NM_002875.5(RAD51):c.451G>A (p.Gly151Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 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:: RCV003565582.3

Allele description [Variation Report for NM_002875.5(RAD51):c.451G>A (p.Gly151Ser)]

NM_002875.5(RAD51):c.451G>A (p.Gly151Ser)

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.451G>A (p.Gly151Ser)

HGVS:

NC_000015.10:g.40718820G>A
NG_012120.1:g.28660G>A
NM_001164269.2:c.454G>A
NM_001164270.2:c.451G>A
NM_002875.5:c.451G>AMANE SELECT
NM_133487.4:c.454G>A
NP_001157741.1:p.Gly152Ser
NP_001157742.1:p.Gly151Ser
NP_002866.2:p.Gly151Ser
NP_597994.3:p.Gly152Ser
LRG_313t1:c.451G>A
LRG_313:g.28660G>A
LRG_313p1:p.Gly151Ser
NC_000015.9:g.41011018G>A
NM_002875.4:c.451G>A

Protein change:

G151S

Molecular consequence:

NM_001164269.2:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164270.2:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002875.5:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133487.4:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

PREDICTED: Gallus gallus protein phosphatase 1 regulatory subunit 42 (PPP1R42), ...
PREDICTED: Gallus gallus protein phosphatase 1 regulatory subunit 42 (PPP1R42), transcript variant X2, mRNA
gi|2201643221|ref|XM_418281.8|

Nucleotide
ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), isoform CRA_a [Homo sa...
ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), isoform CRA_a [Homo sapiens]
gi|119629804|gb|EAX09399.1||gnl|WGS |hCP1813116

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004313684	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 8, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004313684

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 8, 2023)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV004313684.1

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

Description

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. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 151 of the RAD51 protein (p.Gly151Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51-related conditions. ClinVar contains an entry for this variant (Variation ID: 2255456). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated.

#	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

ClinVar

Relating variation to medicine