rs969794392
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001085382.2(PSAPL1):c.1244C>T(p.Thr415Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,224 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. T415N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001085382.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PSAPL1 | ENST00000319098.7 | c.1244C>T | p.Thr415Ile | missense_variant | Exon 1 of 1 | 6 | NM_001085382.2 | ENSP00000317445.4 | ||
SORCS2 | ENST00000507866.6 | c.548+37281G>A | intron_variant | Intron 2 of 26 | 1 | NM_020777.3 | ENSP00000422185.2 | |||
SORCS2 | ENST00000511199.1 | n.163+37281G>A | intron_variant | Intron 2 of 5 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome Cov.: 63
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74358 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at