11-126265036-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_003139.4(SRPRA):c.1448G>A(p.Gly483Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0098 in 1,614,186 control chromosomes in the GnomAD database, including 98 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003139.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRPRA | NM_003139.4 | c.1448G>A | p.Gly483Asp | missense_variant | Exon 11 of 14 | ENST00000332118.11 | NP_003130.2 | |
SRPRA | NM_001177842.2 | c.1364G>A | p.Gly455Asp | missense_variant | Exon 10 of 13 | NP_001171313.1 | ||
SRPRA | XM_047427497.1 | c.1448G>A | p.Gly483Asp | missense_variant | Exon 11 of 14 | XP_047283453.1 | ||
SRPRA | XM_017018179.3 | c.1448G>A | p.Gly483Asp | 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.1448G>A | p.Gly483Asp | missense_variant | Exon 11 of 14 | 1 | NM_003139.4 | ENSP00000328023.5 | ||
SRPRA | ENST00000532259.1 | c.1364G>A | p.Gly455Asp | missense_variant | Exon 10 of 13 | 2 | ENSP00000435508.1 | |||
SRPRA | ENST00000531104.1 | n.527G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
SRPRA | ENST00000527817.1 | n.*44G>A | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00601 AC: 915AN: 152208Hom.: 5 Cov.: 33
GnomAD3 exomes AF: 0.00528 AC: 1327AN: 251404Hom.: 9 AF XY: 0.00530 AC XY: 720AN XY: 135870
GnomAD4 exome AF: 0.0102 AC: 14904AN: 1461860Hom.: 93 Cov.: 32 AF XY: 0.00991 AC XY: 7206AN XY: 727226
GnomAD4 genome AF: 0.00601 AC: 915AN: 152326Hom.: 5 Cov.: 33 AF XY: 0.00503 AC XY: 375AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:1
SRPRA: BS1, BS2 -
SRPRA-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at