NM_058216.3(RAD51C):c.656dup (p.Leu219fs) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV004440313.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.656dup (p.Leu219fs)]

NM_058216.3(RAD51C):c.656dup (p.Leu219fs)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.656dup (p.Leu219fs)

HGVS:

NC_000017.11:g.58703280dup
NG_023199.1:g.15679dup
NG_156533.1:g.156dup
NM_058216.3:c.656dupMANE SELECT
NM_058217.1:c.*84dup
NP_478123.1:p.Leu219Phefs
NP_478123.1:p.Leu219fs
LRG_314t1:c.656dup
LRG_314:g.15679dup
LRG_314p1:p.Leu219Phefs
NC_000017.10:g.56780641dup
NM_058216.1:c.656dup
NR_103872.2:n.531dup

Protein change:

L219fs

Molecular consequence:

NM_058216.3:c.656dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.531dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:: RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:: MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004932641	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jan 3, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004932641

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jan 3, 2024)

unknown

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004932641.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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