chr17:60663284:C>T Detail (hg38) (PPM1D)

Information

Genome

Assembly Position
hg19 chr17:58,740,645-58,740,645 View the variant detail on this assembly version.
hg38 chr17:60,663,284-60,663,284

HGVS

Type Transcript Protein
RefSeq NM_003620.3:c.1550C>T NP_003611.1:p.Thr517Ile
Ensemble ENST00000305921.8:c.1550C>T ENST00000305921.8:p.Thr517Ile
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605100 OMIM
HGNC 9277 HGNC
Ensembl ENSG00000170836 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58296168 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2021/02/15 connective and soft tissue, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-10-23 criteria provided, single submitter not provided germline Detail
Likely benign 2019-08-14 criteria provided, single submitter PPM1D-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_003620.4(PPM1D):c.1550C>T (p.Thr517Ile) AND not provided ClinVar Detail
NM_003620.4(PPM1D):c.1550C>T (p.Thr517Ile) AND PPM1D-related disorder ClinVar 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
rs140786757 dbSNP
Genome
hg38
Position
chr17:60,663,284-60,663,284
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs140786757
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
20
East Asian Heterozygous Counts (ExAC)
20
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0023142791020597086
Chromosome Counts in All Race (ExAC)
121072
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6519096075062772E-4
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