NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 14, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656964.3

Allele description [Variation Report for NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)]

NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)

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.137C>G (p.Ser46Cys)
Other names:
p.S46C:TCT>TGT
HGVS:
  • NC_000017.11:g.35119118G>C
  • NG_031858.1:g.5752C>G
  • NG_054719.1:g.2540G>C
  • NM_001142571.2:c.137C>G
  • NM_002878.4:c.137C>GMANE SELECT
  • NM_133629.3:c.137C>G
  • NP_001136043.1:p.Ser46Cys
  • NP_002869.3:p.Ser46Cys
  • NP_002869.3:p.Ser46Cys
  • NP_598332.1:p.Ser46Cys
  • LRG_516t1:c.137C>G
  • LRG_516:g.5752C>G
  • LRG_516p1:p.Ser46Cys
  • NC_000017.10:g.33446137G>C
  • NM_002878.3:c.137C>G
  • NR_037711.2:n.282C>G
  • NR_037712.2:n.282C>G
  • p.S46C
Protein change:
S46C
Links:
dbSNP: rs587780102
NCBI 1000 Genomes Browser:
rs587780102
Molecular consequence:
  • NM_001142571.2:c.137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.4:c.137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133629.3:c.137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037711.2:n.282C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037712.2:n.282C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149717GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 14, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149717.16

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22986143, 27616075, 21822267, 21111057)

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

Last Updated: Dec 4, 2021

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