11-106708614-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000855.3(GUCY1A2):c.1889G>A(p.Arg630Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000471 in 1,611,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000855.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2 | ENST00000526355.7 | c.1889G>A | p.Arg630Gln | missense_variant | Exon 7 of 8 | 1 | NM_000855.3 | ENSP00000431245.2 | ||
GUCY1A2 | ENST00000282249.6 | c.1982G>A | p.Arg661Gln | missense_variant | Exon 8 of 9 | 1 | ENSP00000282249.2 | |||
GUCY1A2 | ENST00000347596.2 | c.1952G>A | p.Arg651Gln | missense_variant | Exon 8 of 9 | 1 | ENSP00000344874.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151988Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249674Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 135012
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1459992Hom.: 0 Cov.: 30 AF XY: 0.0000523 AC XY: 38AN XY: 726346
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151988Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1889G>A (p.R630Q) alteration is located in exon 7 (coding exon 7) of the GUCY1A2 gene. This alteration results from a G to A substitution at nucleotide position 1889, causing the arginine (R) at amino acid position 630 to be replaced by a glutamine (Q). 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