chr17:12992957:C>T Detail (hg38) (ELAC2)

Information

Genome

Assembly Position
hg19 chr17:12,896,274-12,896,274 View the variant detail on this assembly version.
hg38 chr17:12,992,957-12,992,957

HGVS

Type Transcript Protein
RefSeq NM_018127.6:c.2342G>A NP_060597.4:p.Arg781His
NM_173717.1:c.2342G>A NP_776065.1:p.Arg781His
NM_001165962.1:c.2222G>A NP_001159434.1:p.Arg741His
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 605367 OMIM
HGNC 14198 HGNC
Ensembl ENSG00000006744 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4064031 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-02-01 no assertion criteria provided Prostate cancer, hereditary, 2 germline Detail
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations Combined oxidative phosphorylation defect type 17 germline maternal Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2021-07-30 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Prostate cancer, hereditary, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) AND Prostate cancer, hereditary, 2 ClinVar Detail
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) AND Combined oxidative phosphorylation defect type 17 ClinVar Detail
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) AND not provided ClinVar Detail
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET 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
rs119484086 dbSNP
Genome
hg38
Position
chr17:12,992,957-12,992,957
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8532
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)
120500
Allele Counts in All Race (ExAC)
62
Heterozygous Counts in All Race (ExAC)
62
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.145228215767634E-4
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