chr17:33428258:C>T Detail (hg19) (RAD51D, RAD51L3-RFFL)

Information

Genome

Assembly Position
hg19 chr17:33,428,258-33,428,258
hg38 chr17:35,101,239-35,101,239 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002878.3:c.865G>A NP_002869.3:p.Gly289Ser
NM_001142571.1:c.925G>A NP_001136043.1:p.Gly309Ser
NM_133629.2:c.529G>A NP_598332.1:p.Gly177Ser
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 602954 OMIM
HGNC 9823 HGNC
Ensembl ENSG00000185379 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3181182 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-01-24 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-11-08 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 4 germline Detail
Uncertain significance 2023-07-06 criteria provided, single submitter not provided germline Detail
Uncertain significance 2019-01-15 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND Breast-ovarian cancer, familial, susceptibility to, 4 ClinVar Detail
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND not provided ClinVar Detail
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND not specified ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587782129 dbSNP
Genome
hg19
Position
chr17:33,428,258-33,428,258
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121304
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.243751236562685E-6
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