chr17:58692679:G>A Detail (hg38) (RAD51C)

Information

Genome

Assembly Position
hg19 chr17:56,770,040-56,770,040 View the variant detail on this assembly version.
hg38 chr17:58,692,679-58,692,679

HGVS

Type Transcript Protein
RefSeq NM_058216.2:c.36G>A NP_478123.1:p.Arg12=
NM_002876.3:c.36G>A NP_002867.1:p.Arg12=
Ensemble ENST00000337432.9:c.36G>A ENST00000337432.9:p.Arg12=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv58247654 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2020-01-15 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2023-04-12 criteria provided, single submitter Fanconi anemia complementation group O germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Fanconi anemia complementation group O 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
rs876658798 dbSNP
Genome
hg38
Position
chr17:58,692,679-58,692,679
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser