NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Jan 2, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002467443.5

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)

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

Recent activity

Clear Turn Off Turn On

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
SCV002762839	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 9, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV004209775	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 10, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004931388	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Jan 2, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002762839

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 9, 2022)

germline

research

PubMed (1)
[See all records that cite this PMID]

SCV004209775

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 10, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004931388

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Jan 2, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.

Rofes P, Menéndez M, González S, Tornero E, Gómez C, Vargas-Parra G, Montes E, Salinas M, Solanes A, Brunet J, Teulé A, Capellá G, Feliubadaló L, Del Valle J, Pineda M, Lázaro C.

J Mol Diagn. 2020 Dec;22(12):1453-1468. doi: 10.1016/j.jmoldx.2020.09.007. Epub 2020 Oct 1.

PubMed [citation]

PMID:: 33011440

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV002762839.2

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

Description

PS3, PS4_STR, PM2_SUP, PM5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004209775.2

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

#	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

From Myriad Genetics, Inc., SCV004931388.1

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

Description

This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 33011440].

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine