19-40762979-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004596.5(SNRPA):c.505A>G(p.Met169Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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>G | p.Met169Val | missense_variant | Exon 4 of 6 | 1 | NM_004596.5 | ENSP00000243563.2 | ||
SNRPA | ENST00000601393.1 | c.442A>G | p.Met148Val | missense_variant | Exon 4 of 6 | 3 | ENSP00000472355.1 | |||
SNRPA | ENST00000601545.5 | c.355A>G | p.Met119Val | missense_variant | Exon 4 of 6 | 5 | ENSP00000470534.1 | |||
SNRPA | ENST00000598923.1 | n.640A>G | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.505A>G (p.M169V) alteration is located in exon 4 (coding exon 4) of the SNRPA gene. This alteration results from a A to G substitution at nucleotide position 505, causing the methionine (M) at amino acid position 169 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at