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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

ELAC2

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
Ensemble	ENST00000338034.9:c.2342G>A	ENST00000338034.9:p.Arg781His
	ENST00000395962.6:c.2285G>A	ENST00000395962.6:p.Arg762His
	ENST00000426905.7:c.2222G>A	ENST00000426905.7: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

ELAC2

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

Descrption	Source	Links
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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