chr15:43007204:G>A Detail (hg38) (UBR1)

Information

Genome

Assembly Position
hg19 chr15:43,299,402-43,299,402 View the variant detail on this assembly version.
hg38 chr15:43,007,204-43,007,204

HGVS

Type Transcript Protein
RefSeq NM_174916.2:c.3290C>T NP_777576.1:p.Thr1097Met
Ensemble ENST00000290650.9:c.3290C>T ENST00000290650.9:p.Thr1097Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.001
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
Type Database ID Link
Gene MIM 605981 OMIM
HGNC 16808 HGNC
Ensembl ENSG00000159459 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52729161 TogoVar
COSMIC COSM1372964 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-24 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2016-11-07 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-03-01 criteria provided, single submitter Johanson-Blizzard syndrome germline Detail
Likely benign 2022-11-20 criteria provided, single submitter UBR1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND not provided ClinVar Detail
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND not specified ClinVar Detail
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND Johanson-Blizzard syndrome ClinVar Detail
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND UBR1-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
rs142285781 dbSNP
Genome
hg38
Position
chr15:43,007,204-43,007,204
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
86.13
Standard deviation of sample read depth (HGVD)
39.24
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
UBR1
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))
rs142285781
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0011
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
19
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121382
Allele Counts in All Race (ExAC)
84
Heterozygous Counts in All Race (ExAC)
82
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
6.920301197871183E-4
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