rs868113155
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004596.5(SNRPA):āc.505A>Cā(p.Met169Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004596.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNRPA | ENST00000243563.8 | c.505A>C | p.Met169Leu | missense_variant | Exon 4 of 6 | 1 | NM_004596.5 | ENSP00000243563.2 | ||
SNRPA | ENST00000601393.1 | c.442A>C | p.Met148Leu | missense_variant | Exon 4 of 6 | 3 | ENSP00000472355.1 | |||
SNRPA | ENST00000601545.5 | c.355A>C | p.Met119Leu | missense_variant | Exon 4 of 6 | 5 | ENSP00000470534.1 | |||
SNRPA | ENST00000598923.1 | n.640A>C | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460606Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726652
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at