chr2:215325297:C>G Detail (hg38) (ATIC)

Information

Genome

Assembly Position
hg19 chr2:216,190,020-216,190,020 View the variant detail on this assembly version.
hg38 chr2:215,325,297-215,325,297

HGVS

Type Transcript Protein
RefSeq NM_004044.6:c.347C>G NP_004035.2:p.Thr116Ser
Ensemble ENST00000236959.14:c.347C>G ENST00000236959.14:p.Thr116Ser
ENST00000435675.5:c.344C>G ENST00000435675.5:p.Thr115Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.208
ToMMo:0.195
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.285

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601731 OMIM
HGNC 794 HGNC
Ensembl ENSG00000138363 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10453876 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts AICA-ribosiduria germline unknown Detail
Benign 2024-01-29 criteria provided, single submitter not provided germline Detail
Benign 2019-10-18 criteria provided, single submitter ATIC-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.020 rheumatoid arthritis We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... BeFree 15457444 Detail
0.137 rheumatoid arthritis We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... BeFree 15457444 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) AND AICA-ribosiduria ClinVar Detail
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) AND not provided ClinVar Detail
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) AND ATIC-related disorder ClinVar Detail
We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and ... DisGeNET Detail
We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and ... 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
rs2372536 dbSNP
Genome
hg38
Position
chr2:215,325,297-215,325,297
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
91.60
Standard deviation of sample read depth (HGVD)
39.95
Number of reference allele (HGVD)
1915
Number of alternative allele (HGVD)
503
Allele Frequency (HGVD)
0.20802315963606285
Gene Symbol (HGVD)
ATIC
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))
rs2372536
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1953
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3274
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
2461
East Asian Heterozygous Counts (ExAC)
1721
East Asian Homozygous Counts (ExAC)
370
East Asian Allele Frequency (ExAC)
0.2845744680851064
Chromosome Counts in All Race (ExAC)
121370
Allele Counts in All Race (ExAC)
39259
Heterozygous Counts in All Race (ExAC)
25341
Homozygous Counts in All Race (ExAC)
6959
Allele Frequency in All Race (ExAC)
0.3234654362692593
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