NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000212959.3

Allele description [Variation Report for NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)]

NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)

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.413A>G (p.Asn138Ser)
Other names:
p.N138S:AAT>AGT
HGVS:
  • NC_000017.11:g.35107055T>C
  • NG_031858.1:g.17815A>G
  • NM_001142571.2:c.473A>G
  • NM_002878.4:c.413A>GMANE SELECT
  • NM_133629.3:c.145-574A>G
  • NP_001136043.1:p.Asn158Ser
  • NP_002869.3:p.Asn138Ser
  • NP_002869.3:p.Asn138Ser
  • LRG_516t1:c.413A>G
  • LRG_516:g.17815A>G
  • LRG_516p1:p.Asn138Ser
  • NC_000017.10:g.33434074T>C
  • NM_002878.3:c.413A>G
  • NR_037711.2:n.439A>G
  • p.N138S
Protein change:
N138S
Links:
dbSNP: rs201676898
NCBI 1000 Genomes Browser:
rs201676898
Molecular consequence:
  • NM_133629.3:c.145-574A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142571.2:c.473A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.4:c.413A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037711.2:n.439A>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
SCV000149724GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 17, 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, SCV000149724.15

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

Description

Observed in individuals with a personal or family history including breast, ovarian, prostate, and other cancers (Johnson 2014, Ring 2016, Tung 2015, Shindo 2017, Sanchez-Bermudez 2018, Tsaousis 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25186627, 28767289, 25111073, 27443514, 29409816, 31159747, 21111057, 14704354, 19327148, 27535533)

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

Last Updated: Dec 4, 2021

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