chr2:190925077:T>C Detail (hg19) (MSTN, C2orf88)

Information

Genome

Assembly Position
hg19 chr2:190,925,077-190,925,077
hg38 chr2:190,060,351-190,060,351 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005259.2:c.458A>G NP_005250.1:p.Lys153Arg
Ensemble ENST00000260950.5:c.458A>G ENST00000260950.5:p.Lys153Arg
Summary

MGeND

Clinical significance Benign
Variant entry 1
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:0.003

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601788 OMIM
HGNC 4223 HGNC
Ensembl ENSG00000138379 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9909440 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-05-28 criteria provided, multiple submitters, no conflicts myostatin-related muscle hypertrophy germline unknown Detail
Benign 2021-06-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Glycogen Storage Disease Type V Does the K153R variant of the myostatin gene influence the clinical presentation... BeFree 19232494 Detail
0.002 obesity Recent studies demonstrated an association between the K153R polymorphism in the... BeFree 25543063 Detail
0.005 Glycogen Storage Disease Type V We compared clinical presentation and exercise capacity between (i) four women w... BeFree 19232494 Detail
0.133 Glycogen Storage Disease Type V We compared clinical presentation and exercise capacity between (i) four women w... BeFree 19232494 Detail
0.005 Glycogen Storage Disease Type V We compared clinical presentation and exercise capacity between (i) four women w... BeFree 19232494 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) AND Myostatin-related muscle hypertrophy ClinVar Detail
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) AND not provided ClinVar Detail
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArd... DisGeNET Detail
Recent studies demonstrated an association between the K153R polymorphism in the myostatin gene with... DisGeNET Detail
We compared clinical presentation and exercise capacity between (i) four women with McArdle disease ... DisGeNET Detail
We compared clinical presentation and exercise capacity between (i) four women with McArdle disease ... DisGeNET Detail
We compared clinical presentation and exercise capacity between (i) four women with McArdle disease ... 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
rs1805086 dbSNP
Genome
hg19
Position
chr2:190,925,077-190,925,077
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
85.70
Standard deviation of sample read depth (HGVD)
38.04
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
MSTN
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))
rs1805086
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8608
East Asian Allele Counts (ExAC)
22
East Asian Heterozygous Counts (ExAC)
22
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0025557620817843866
Chromosome Counts in All Race (ExAC)
120848
Allele Counts in All Race (ExAC)
3741
Heterozygous Counts in All Race (ExAC)
3229
Homozygous Counts in All Race (ExAC)
256
Allele Frequency in All Race (ExAC)
0.030956242552628094
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