chr17:12995006:T>C Detail (hg38) (ELAC2)

Information

Genome

Assembly Position
hg19 chr17:12,898,323-12,898,323 View the variant detail on this assembly version.
hg38 chr17:12,995,006-12,995,006

HGVS

Type Transcript Protein
RefSeq NM_018127.6:c.1865A>G NP_060597.4:p.Glu622Gly
NM_173717.1:c.1865A>G NP_776065.1:p.Glu622Gly
NM_001165962.1:c.1745A>G NP_001159434.1:p.Glu582Gly
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 Uncertain significance
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 tgv57125455 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-07-13 criteria provided, single submitter Combined oxidative phosphorylation defect type 17 germline Detail
Uncertain significance 2022-04-13 criteria provided, single submitter Prostate cancer, hereditary, 2,Combined oxidative phosphorylation defect type 17 unknown Detail
Uncertain significance 2022-04-13 criteria provided, single submitter Prostate cancer, hereditary, 2,Combined oxidative phosphorylation defect type 17 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Prostate cancer, hereditary, 2 NA CLINVAR Detail
<0.001 Metastatic Prostate Carcinoma We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... BeFree 16114055 Detail
<0.001 Metastatic Prostate Carcinoma We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... BeFree 16114055 Detail
0.062 Malignant neoplasm of prostate We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... BeFree 16114055 Detail
0.240 Prostate cancer, hereditary, 2 ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. UNIPROT 11507049 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) AND Combined oxidative phosphorylation defect type 17 ClinVar Detail
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) AND multiple conditions ClinVar Detail
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... DisGeNET Detail
We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... DisGeNET Detail
We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... DisGeNET Detail
ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. 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
rs119484087 dbSNP
Genome
hg38
Position
chr17:12,995,006-12,995,006
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121374
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295598727898891E-5
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