NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001194378.1

Allele description [Variation Report for NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)]

NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)

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.865G>A (p.Gly289Ser)
HGVS:
  • NC_000017.11:g.35101239C>T
  • NG_031858.1:g.23631G>A
  • NM_001142571.2:c.925G>A
  • NM_002878.3:c.865G>A
  • NM_002878.4:c.865G>AMANE SELECT
  • NM_133629.3:c.529G>A
  • NP_001136043.1:p.Gly309Ser
  • NP_002869.3:p.Gly289Ser
  • NP_002869.3:p.Gly289Ser
  • NP_598332.1:p.Gly177Ser
  • LRG_516t1:c.865G>A
  • LRG_516:g.23631G>A
  • LRG_516p1:p.Gly289Ser
  • NC_000017.10:g.33428258C>T
  • NR_037711.2:n.891G>A
  • NR_037712.2:n.756G>A
  • NR_037714.1:n.617G>A
  • p.G289S
Protein change:
G177S
Links:
dbSNP: rs587782129
NCBI 1000 Genomes Browser:
rs587782129
Molecular consequence:
  • NM_001142571.2:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.3:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.4:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133629.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037711.2:n.891G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037712.2:n.756G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037714.1:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001363870Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jan 15, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363870.1

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

Description

Variant summary: The variant, RAD51D c.865G>A (p.Gly289Ser) results in a non-conservative amino acid change located in the c-terminus of DNA recombination and repair protein Rad51-like. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 246204 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.865G>A has been reported in the literature in an individual affected with breast cancer (Konstanta_2018). This report, however does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, one classified as likely benign while two classified as VUS. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 30, 2021

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