chr8:106814279:A>G Detail (hg19) (ZFPM2, ZFPM2-AS1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr8:106,814,279-106,814,279
hg38	chr8:105,802,051-105,802,051 View the variant detail on this assembly version.

HGVS

ZFPM2

Type	Transcript	Protein
RefSeq	NM_012082.3:c.1969A>G	NP_036214.2:p.Ser657Gly
Ensemble	ENST00000407775.7:c.1969A>G	ENST00000407775.7:p.Ser657Gly
	ENST00000517361.1:c.1573A>G	ENST00000517361.1:p.Ser525Gly
	ENST00000520492.5:c.1573A>G	ENST00000520492.5:p.Ser525Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

Links

ZFPM2

Type	Database	ID	Link
Gene	MIM	603693	OMIM
	HGNC	16700	HGNC
	Ensembl	ENSG00000169946	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv34236676	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-11-01	no assertion criteria provided	tetralogy of Fallot	germline	Detail
Benign	2024-01-29	criteria provided, multiple submitters, no conflicts	46,XY sex reversal 9	germline unknown	Detail
Likely benign	2023-04-10	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.562	tetralogy of Fallot	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.	UNIPROT	14517948	Detail

Annotation

Annotations

Descrption	Source	Links
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND Tetralogy of Fallot	ClinVar	Detail
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND 46,XY sex reversal 9	ClinVar	Detail
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND not specified	ClinVar	Detail
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.	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: rs28374544 dbSNP
Genome: hg19
Position: chr8:106,814,279-106,814,279
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): PASS
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 181.51
Standard deviation of sample read depth (HGVD): 83.36
Number of reference allele (HGVD): 2419
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 4.1322314049586776E-4
Gene Symbol (HGVD): ZFPM2
East Asian Chromosome Counts (ExAC): 8490
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): 119554
Allele Counts in All Race (ExAC): 1504
Heterozygous Counts in All Race (ExAC): 1328
Homozygous Counts in All Race (ExAC): 88
Allele Frequency in All Race (ExAC): 0.012580089332017331

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