rs104886037
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_001360.3(DHCR7):c.185A>T(p.Asp62Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000435 in 1,610,960 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 Lovd as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. D62D) has been classified as Likely benign.
Frequency
Consequence
NM_001360.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DHCR7 | NM_001360.3 | c.185A>T | p.Asp62Val | missense_variant | 4/9 | ENST00000355527.8 | |
DHCR7 | NM_001163817.2 | c.185A>T | p.Asp62Val | missense_variant | 4/9 | ||
DHCR7 | XM_011544777.3 | c.185A>T | p.Asp62Val | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DHCR7 | ENST00000355527.8 | c.185A>T | p.Asp62Val | missense_variant | 4/9 | 1 | NM_001360.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152086Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000817 AC: 2AN: 244874Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132558
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1458874Hom.: 0 Cov.: 35 AF XY: 0.00000414 AC XY: 3AN XY: 725458
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at