NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 7, 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:: RCV001582758.4

Allele description [Variation Report for NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)]

NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)

Gene:

RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)

HGVS:

NC_000017.11:g.58695189G>A
NG_023199.1:g.7588G>A
NG_047169.1:g.1891C>T
NM_002876.4:c.404G>A
NM_058216.3:c.404G>AMANE SELECT
NP_002867.1:p.Trp135Ter
NP_478123.1:p.Cys135Tyr
LRG_314t1:c.404G>A
LRG_314:g.7588G>A
NC_000017.10:g.56772550G>A
NM_058216.1:c.404G>A
NM_058216.2:c.404G>A
NR_103872.2:n.446G>A
NR_103873.1:n.372G>A

Protein change:

C135Y

Links:

dbSNP: rs767796996

NCBI 1000 Genomes Browser:

rs767796996

Molecular consequence:

NM_058216.3:c.404G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.446G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.372G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_002876.4:c.404G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001812635	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001812635

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 7, 2022)

germline

clinical testing

Citation Link

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 GeneDx, SCV001812635.2

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

Description

Alters the last nucleotide of the exon and is demonstrated to promote the use of a cryptic splice site resulting in multiple transcripts with a protein termination codon (Sanoguera-Miralles et al., 2020); Not observed at a significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect: unable to restore RAD51 foci formation (Osorio et al., 2012); This variant is associated with the following publications: (PMID: 25154786, 22451500, 29409816, 24993905, 29922827, 25470109, 23117857, 28829762, 31125277, 33011440, 14704354, 27622768, 32322110, 33086730, 35039523, 33333735, 34923718, 28888541, 35264596)

#	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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