chr10:122454839:C>T Detail (hg38) (ARMS2)

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Information

Genome

Assembly	Position
hg19	chr10:124,214,355-124,214,355 View the variant detail on this assembly version.
hg38	chr10:122,454,839-122,454,839

Type	Transcript	Protein
RefSeq	NM_001099667.1:c.112C>T	NP_001093137.1:p.Arg38Ter
Ensemble	ENST00000528446.1:c.112C>T	ENST00000528446.1:p.Arg38Ter

Summary

Links

Type	Database	ID	Link
Gene	MIM	611313	OMIM
	HGNC	32685	HGNC
	Ensembl	ENSG00000254636	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv40934418	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2018-03-06	criteria provided, single submitter	age related macular degeneration 8	germline	Detail
Likely benign	2019-11-04	criteria provided, single submitter	ARMS2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.404	age related macular degeneration	PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associat...	BeFree	25074467	Detail
0.404	age related macular degeneration	R38X variant of ARMS2 seems to be protective from wet ARMD.	BeFree	22293892	Detail
0.128	Exudative age-related macular degeneration	A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc...	BeFree	22293892	Detail
0.131	Exudative age-related macular degeneration	A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc...	BeFree	22293892	Detail
0.480	age related macular degeneration	Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and ...	BeFree	22293892	Detail

Annotation

Descrption	Source	Links
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) AND Age related macular degeneration 8	ClinVar	Detail
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) AND ARMS2-related disorder	ClinVar	Detail
PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related ...	DisGeNET	Detail
R38X variant of ARMS2 seems to be protective from wet ARMD.	DisGeNET	Detail
A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac...	DisGeNET	Detail
A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac...	DisGeNET	Detail
Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARM...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2736911 dbSNP
Genome: hg38
Position: chr10:122,454,839-122,454,839
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 1209
Mean of sample read depth (HGVD): 111.19
Standard deviation of sample read depth (HGVD): 47.36
Number of reference allele (HGVD): 1915
Number of alternative allele (HGVD): 503
Allele Frequency (HGVD): 0.20802315963606285
Gene Symbol (HGVD): ARMS2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs2736911
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2151
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 3605
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8612
East Asian Allele Counts (ExAC): 1366
East Asian Heterozygous Counts (ExAC): 1148
East Asian Homozygous Counts (ExAC): 109
East Asian Allele Frequency (ExAC): 0.15861588481189037
Chromosome Counts in All Race (ExAC): 120752
Allele Counts in All Race (ExAC): 15806
Heterozygous Counts in All Race (ExAC): 13388
Homozygous Counts in All Race (ExAC): 1209
Allele Frequency in All Race (ExAC): 0.13089638266861003

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