rs1368733883
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001130682.3(GUCY1A1):c.1954G>A(p.Gly652Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000106 in 1,610,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001130682.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GUCY1A1 | NM_001130682.3 | c.1954G>A | p.Gly652Arg | missense_variant | 10/10 | ENST00000506455.6 | |
LOC105377506 | XR_007058484.1 | n.583-2136C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GUCY1A1 | ENST00000506455.6 | c.1954G>A | p.Gly652Arg | missense_variant | 10/10 | 1 | NM_001130682.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151654Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250806Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135524
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1459150Hom.: 0 Cov.: 29 AF XY: 0.0000124 AC XY: 9AN XY: 725964
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151654Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74000
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at