rs104894124
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The ENST00000373588.9(NR5A1):c.43G>A(p.Val15Met) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,314 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V15A) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000373588.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NR5A1 | NM_004959.5 | c.43G>A | p.Val15Met | missense_variant | 2/7 | ENST00000373588.9 | NP_004950.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NR5A1 | ENST00000373588.9 | c.43G>A | p.Val15Met | missense_variant | 2/7 | 1 | NM_004959.5 | ENSP00000362690 | P1 | |
NR5A1 | ENST00000620110.4 | c.43G>A | p.Val15Met | missense_variant | 2/6 | 5 | ENSP00000483309 | |||
NR5A1 | ENST00000455734.1 | c.43G>A | p.Val15Met | missense_variant | 2/4 | 3 | ENSP00000393245 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459314Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725906
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
46,XY sex reversal 3 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at