rs201992328
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030785.4(RSPH6A):c.1769C>T(p.Pro590Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000516 in 1,551,734 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P590Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_030785.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RSPH6A | ENST00000221538.8 | c.1769C>T | p.Pro590Leu | missense_variant | Exon 4 of 6 | 1 | NM_030785.4 | ENSP00000221538.2 | ||
RSPH6A | ENST00000597055.1 | c.1769C>T | p.Pro590Leu | missense_variant | Exon 4 of 6 | 1 | ENSP00000472630.1 | |||
RSPH6A | ENST00000600188.5 | c.977C>T | p.Pro326Leu | missense_variant | Exon 3 of 5 | 2 | ENSP00000471559.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000462 AC: 1AN: 216318Hom.: 0 AF XY: 0.00000848 AC XY: 1AN XY: 117900
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1399406Hom.: 0 Cov.: 32 AF XY: 0.00000287 AC XY: 2AN XY: 696052
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74488
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at