NM_058216.3(RAD51C):c.615_616del (p.His207fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 29, 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:: RCV002360433.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.615_616del (p.His207fs)]

NM_058216.3(RAD51C):c.615_616del (p.His207fs)

Genes:

LOC129390903:MPRA-validated peak2919 silencer [Gene]
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.615_616del (p.His207fs)

HGVS:

NC_000017.11:g.58703239_58703240del
NG_023199.1:g.15638_15639del
NM_058216.3:c.615_616delMANE SELECT
NM_058217.1:c.*43_*44delTT
NP_478123.1:p.His207Tyrfs
NP_478123.1:p.His207fs
LRG_314t1:c.615_616del
LRG_314:g.15638_15639del
LRG_314p1:p.His207Tyrfs
NC_000017.10:g.56780600_56780601del
NM_058216.1:c.615_616delTT
NR_103872.2:n.490_491del

Protein change:

H207fs

Molecular consequence:

NM_058216.3:c.615_616del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.490_491del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002660294	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002660294

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 29, 2023)

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

Details of each submission

From Ambry Genetics, SCV002660294.2

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

Description

The c.615_616delTT pathogenic mutation, located in coding exon 4 of the RAD51C gene, results from a deletion of two nucleotides at nucleotide positions 615 to 616, causing a translational frameshift with a predicted alternate stop codon (p.H207Yfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 7, 2024

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