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NM_002878.4(RAD51D):c.348A>G (p.Val116=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 30, 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:
RCV002457423.2

Allele description [Variation Report for NM_002878.4(RAD51D):c.348A>G (p.Val116=)]

NM_002878.4(RAD51D):c.348A>G (p.Val116=)

Genes:
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_002878.4(RAD51D):c.348A>G (p.Val116=)
HGVS:
  • NC_000017.11:g.35107120T>C
  • NG_031858.1:g.17750A>G
  • NM_001142571.2:c.408A>G
  • NM_002878.4:c.348A>GMANE SELECT
  • NM_133629.3:c.145-639A>G
  • NP_001136043.1:p.Val136=
  • NP_002869.3:p.Val116=
  • NP_002869.3:p.Val116=
  • LRG_516t1:c.348A>G
  • LRG_516:g.17750A>G
  • LRG_516p1:p.Val116=
  • NC_000017.10:g.33434139T>C
  • NM_002878.3:c.348A>G
  • NR_037711.2:n.374A>G
Molecular consequence:
  • NM_133629.3:c.145-639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_037711.2:n.374A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001142571.2:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002878.4:c.348A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002616074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 30, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002616074.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024