chr2:31754395:C>T Detail (hg19) (SRD5A2)

Information

Genome

Assembly Position
hg19 chr2:31,754,395-31,754,395
hg38 chr2:31,529,325-31,529,325 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000348.3:c.679G>A NP_000339.2:p.Glu227Lys
Ensemble ENST00000622030.2:c.679G>A ENST00000622030.2:p.Glu227Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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:0.006

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607306 OMIM
HGNC 11285 HGNC
Ensembl ENSG00000277893 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6354129 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-07-01 no assertion criteria provided germline Detail
Pathogenic 2016-04-15 criteria provided, single submitter not provided germline not provided Detail
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency germline inherited somatic unknown Detail
Likely pathogenic 2023-07-28 no assertion criteria provided autism spectrum disorder unknown Detail
Likely pathogenic 2023-11-16 criteria provided, single submitter SRD5A2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Malignant neoplasm of prostate The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... BeFree 16039774 Detail
<0.001 Benign Prostatic Hyperplasia The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... BeFree 16039774 Detail
0.003 prostate carcinoma The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... BeFree 16039774 Detail
0.011 Benign Prostatic Hyperplasia The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... BeFree 16039774 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND Micropenis ClinVar Detail
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND not provided ClinVar Detail
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficienc... ClinVar Detail
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND Autism spectrum disorder ClinVar Detail
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND SRD5A2-related disorder ClinVar Detail
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... DisGeNET Detail
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... DisGeNET Detail
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... DisGeNET Detail
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... 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
rs9332964 dbSNP
Genome
hg19
Position
chr2:31,754,395-31,754,395
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))
rs9332964
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
17
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8540
East Asian Allele Counts (ExAC)
48
East Asian Heterozygous Counts (ExAC)
48
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.005620608899297424
Chromosome Counts in All Race (ExAC)
120240
Allele Counts in All Race (ExAC)
49
Heterozygous Counts in All Race (ExAC)
49
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.075182967398536E-4
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