11-126265112-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_003139.4(SRPRA):c.1372C>G(p.Arg458Gly) 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 pathogenic outcome for this variant. 11/19 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003139.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRPRA | NM_003139.4 | c.1372C>G | p.Arg458Gly | missense_variant | Exon 11 of 14 | ENST00000332118.11 | NP_003130.2 | |
SRPRA | NM_001177842.2 | c.1288C>G | p.Arg430Gly | missense_variant | Exon 10 of 13 | NP_001171313.1 | ||
SRPRA | XM_047427497.1 | c.1372C>G | p.Arg458Gly | missense_variant | Exon 11 of 14 | XP_047283453.1 | ||
SRPRA | XM_017018179.3 | c.1372C>G | p.Arg458Gly | missense_variant | Exon 11 of 14 | XP_016873668.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRPRA | ENST00000332118.11 | c.1372C>G | p.Arg458Gly | missense_variant | Exon 11 of 14 | 1 | NM_003139.4 | ENSP00000328023.5 | ||
SRPRA | ENST00000532259.1 | c.1288C>G | p.Arg430Gly | missense_variant | Exon 10 of 13 | 2 | ENSP00000435508.1 | |||
SRPRA | ENST00000527817.1 | n.655C>G | non_coding_transcript_exon_variant | Exon 5 of 5 | 2 | |||||
SRPRA | ENST00000531104.1 | n.451C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
SRPRA: PM1, PM2, PP3 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.