chr9:124500574:G>A Detail (hg38) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,262,853-127,262,853 View the variant detail on this assembly version.
hg38 chr9:124,500,574-124,500,574

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu
Ensemble ENST00000373588.9:c.386C>T ENST00000373588.9:p.Pro129Leu
ENST00000620110.4:c.386C>T ENST00000620110.4:p.Pro129Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 184757 OMIM
HGNC 7983 HGNC
Ensembl ENSG00000136931 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv364691838 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-10-08 no assertion criteria provided Premature ovarian failure 7 germline Detail
Pathogenic 2010-10-08 no assertion criteria provided spermatogenic failure 8 germline Detail
Likely benign 2021-05-11 criteria provided, single submitter not provided germline Detail
Likely benign 2023-12-14 criteria provided, single submitter Oligosynaptic infertility,46,XY disorder of sex development germline Detail
Likely benign 2023-12-14 criteria provided, single submitter Oligosynaptic infertility,46,XY disorder of sex development germline Detail
Likely benign 2022-02-09 criteria provided, single submitter NR5A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 PREMATURE OVARIAN FAILURE 7 (disorder) NA CLINVAR Detail
0.240 spermatogenic failure 8 NA CLINVAR Detail
0.240 spermatogenic failure 8 Mutations in NR5A1 associated with ovarian insufficiency. UNIPROT 19246354 Detail
0.360 PREMATURE OVARIAN FAILURE 7 (disorder) Mutations in NR5A1 associated with ovarian insufficiency. UNIPROT 19246354 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.4(NR5A1):c.[368G>C;386C>T] AND Premature ovarian failure 7 ClinVar Detail
NM_004959.4(NR5A1):c.[368G>C;386C>T] AND Spermatogenic failure 8 ClinVar Detail
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) AND not provided ClinVar Detail
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) AND multiple conditions ClinVar Detail
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) AND multiple conditions ClinVar Detail
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) AND NR5A1-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in NR5A1 associated with ovarian insufficiency. DisGeNET Detail
Mutations in NR5A1 associated with ovarian insufficiency. 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
rs200749741 dbSNP
Genome
hg38
Position
chr9:124,500,574-124,500,574
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8234
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
111400
Allele Counts in All Race (ExAC)
29
Heterozygous Counts in All Race (ExAC)
29
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.6032315978456017E-4
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