chr2:127059056:G>A Detail (hg38) (BIN1)

Information

Genome

Assembly Position
hg19 chr2:127,816,632-127,816,632 View the variant detail on this assembly version.
hg38 chr2:127,059,056-127,059,056

HGVS

Type Transcript Protein
RefSeq NM_139346.2:c.909C>T NP_647596.1:p.Ala303=
NM_001320641.1:c.957C>T NP_001307570.1:p.Ala319=
NM_001320642.1:c.957C>T NP_001307571.1:p.Ala319=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.020
ToMMo:0.020
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.122

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601248 OMIM
HGNC 1052 HGNC
Ensembl ENSG00000136717 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8517196 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2016-01-28 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Myopathy, centronuclear, 2 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_139343.3(BIN1):c.957C>T (p.Ala319=) AND not specified ClinVar Detail
NM_139343.3(BIN1):c.957C>T (p.Ala319=) AND Myopathy, centronuclear, 2 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
rs2276579 dbSNP
Genome
hg38
Position
chr2:127,059,056-127,059,056
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1128
Mean of sample read depth (HGVD)
28.39
Standard deviation of sample read depth (HGVD)
12.58
Number of reference allele (HGVD)
2212
Number of alternative allele (HGVD)
44
Allele Frequency (HGVD)
0.01950354609929078
Gene Symbol (HGVD)
BIN1
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))
rs2276579
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0197
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
331
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
1938
East Asian Allele Counts (ExAC)
237
East Asian Heterozygous Counts (ExAC)
227
East Asian Homozygous Counts (ExAC)
5
East Asian Allele Frequency (ExAC)
0.12229102167182662
Chromosome Counts in All Race (ExAC)
36022
Allele Counts in All Race (ExAC)
9196
Heterozygous Counts in All Race (ExAC)
7470
Homozygous Counts in All Race (ExAC)
863
Allele Frequency in All Race (ExAC)
0.2552884348453723
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