chr15:91295110:C>T Detail (hg19) (BLM)

Information

Genome

Assembly Position
hg19 chr15:91,295,110-91,295,110
hg38 chr15:90,751,880-90,751,880 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287247.1:c.893C>T NP_001274176.1:p.Thr298Met
NM_000057.3:c.893C>T NP_000048.1:p.Thr298Met
NM_001287246.1:c.893C>T NP_001274175.1:p.Thr298Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.087
ToMMo:0.091
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.090

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604610 OMIM
HGNC 1058 HGNC
Ensembl ENSG00000197299 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53968479 TogoVar
COSMIC COSM147984 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-21 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Bloom syndrome germline Detail
Benign 2020-11-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2016-08-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.080 breast carcinoma In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... BeFree 19205873 Detail
0.360 Malignant neoplasm of breast In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... BeFree 19205873 Detail
0.010 Malignant neoplasm of breast In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... BeFree 19205873 Detail
0.003 breast carcinoma In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... BeFree 19205873 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000057.4(BLM):c.893C>T (p.Thr298Met) AND not specified ClinVar Detail
NM_000057.4(BLM):c.893C>T (p.Thr298Met) AND Bloom syndrome ClinVar Detail
NM_000057.4(BLM):c.893C>T (p.Thr298Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000057.4(BLM):c.893C>T (p.Thr298Met) AND not provided ClinVar Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... DisGeNET Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... DisGeNET Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... DisGeNET Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... 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
rs28384991 dbSNP
Genome
hg19
Position
chr15:91,295,110-91,295,110
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1195
Mean of sample read depth (HGVD)
36.39
Standard deviation of sample read depth (HGVD)
23.59
Number of reference allele (HGVD)
2182
Number of alternative allele (HGVD)
208
Allele Frequency (HGVD)
0.08702928870292886
Gene Symbol (HGVD)
BLM
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))
rs28384991
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0913
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1530
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)
780
East Asian Heterozygous Counts (ExAC)
696
East Asian Homozygous Counts (ExAC)
42
East Asian Allele Frequency (ExAC)
0.09013173099144904
Chromosome Counts in All Race (ExAC)
121320
Allele Counts in All Race (ExAC)
1042
Heterozygous Counts in All Race (ExAC)
956
Homozygous Counts in All Race (ExAC)
43
Allele Frequency in All Race (ExAC)
0.008588855918232772
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