rs6446261
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000581.4(GPX1):āc.580G>Cā(p.Ala194Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. 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. A194T) has been classified as Likely benign.
Frequency
Consequence
NM_000581.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPX1 | ENST00000419783.3 | c.580G>C | p.Ala194Pro | missense_variant | Exon 2 of 2 | 1 | NM_000581.4 | ENSP00000407375.1 | ||
ENSG00000290318 | ENST00000704381 | c.*300G>C | 3_prime_UTR_variant | Exon 6 of 6 | ENSP00000515884.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245164Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133840
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.85e-7 AC: 1AN: 1460244Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726272
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at