chr17:58695018:C>T Detail (hg38) (RAD51C)

Information

Genome

Assembly Position
hg19 chr17:56,772,379-56,772,379 View the variant detail on this assembly version.
hg38 chr17:58,695,018-58,695,018

HGVS

Type Transcript Protein
RefSeq NM_058216.2:c.233C>T NP_478123.1:p.Thr78Ile
NM_002876.3:c.233C>T NP_002867.1:p.Thr78Ile
Ensemble ENST00000337432.9:c.233C>T ENST00000337432.9:p.Thr78Ile
Summary

MGeND

Clinical significance
Variant entry
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 602774 OMIM
HGNC 9820 HGNC
Ensembl ENSG00000108384 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv287307873 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-27 criteria provided, single submitter Fanconi anemia complementation group O germline Detail
Uncertain significance 2023-02-03 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2022-12-06 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance no assertion criteria provided unknown Detail
Uncertain significance 2022-03-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 3,Fanconi anemia complementation group O unknown Detail
Uncertain significance 2022-03-31 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 3,Fanconi anemia complementation group O unknown Detail
Uncertain significance 2023-05-11 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 3 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND Fanconi anemia complementation group O ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND not provided ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND Malignant tumor of breast ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND multiple conditions ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND multiple conditions ClinVar Detail
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) AND Breast-ovarian cancer, familial, susceptibility to, 3 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
rs112832782 dbSNP
Genome
hg38
Position
chr17:58,695,018-58,695,018
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
6
East Asian Heterozygous Counts (ExAC)
6
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
6.934812760055479E-4
Chromosome Counts in All Race (ExAC)
121356
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9441313161277566E-5
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