11-106776519-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000855.3(GUCY1A2):c.1756G>A(p.Ala586Thr) 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. 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GUCY1A2 | NM_000855.3 | c.1756G>A | p.Ala586Thr | missense_variant | Exon 6 of 8 | ENST00000526355.7 | NP_000846.1 | |
GUCY1A2 | NM_001256424.2 | c.1756G>A | p.Ala586Thr | missense_variant | Exon 6 of 9 | NP_001243353.1 | ||
LOC112268081 | XR_002957264.2 | n.485+345C>T | intron_variant | Intron 3 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2 | ENST00000526355.7 | c.1756G>A | p.Ala586Thr | missense_variant | Exon 6 of 8 | 1 | NM_000855.3 | ENSP00000431245.2 | ||
GUCY1A2 | ENST00000282249.6 | c.1756G>A | p.Ala586Thr | missense_variant | Exon 6 of 9 | 1 | ENSP00000282249.2 | |||
GUCY1A2 | ENST00000347596.2 | c.1819G>A | p.Ala607Thr | missense_variant | Exon 7 of 9 | 1 | ENSP00000344874.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1756G>A (p.A586T) alteration is located in exon 6 (coding exon 6) of the GUCY1A2 gene. This alteration results from a G to A substitution at nucleotide position 1756, causing the alanine (A) at amino acid position 586 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.