NM_000855.3:c.1792G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000855.3(GUCY1A2):c.1792G>C(p.Glu598Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000725 in 1,613,676 control chromosomes in the GnomAD database, including 1 homozygotes. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GUCY1A2 | NM_000855.3 | c.1792G>C | p.Glu598Gln | missense_variant | Exon 6 of 8 | ENST00000526355.7 | NP_000846.1 | |
GUCY1A2 | NM_001256424.2 | c.1792G>C | p.Glu598Gln | missense_variant | Exon 6 of 9 | NP_001243353.1 | ||
LOC112268081 | XR_002957264.2 | n.485+309C>G | intron_variant | Intron 3 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2 | ENST00000526355.7 | c.1792G>C | p.Glu598Gln | missense_variant | Exon 6 of 8 | 1 | NM_000855.3 | ENSP00000431245.2 | ||
GUCY1A2 | ENST00000282249.6 | c.1792G>C | p.Glu598Gln | missense_variant | Exon 6 of 9 | 1 | ENSP00000282249.2 | |||
GUCY1A2 | ENST00000347596.2 | c.1855G>C | p.Glu619Gln | missense_variant | Exon 7 of 9 | 1 | ENSP00000344874.2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251308Hom.: 1 AF XY: 0.0000515 AC XY: 7AN XY: 135830
GnomAD4 exome AF: 0.0000739 AC: 108AN: 1461550Hom.: 1 Cov.: 30 AF XY: 0.0000688 AC XY: 50AN XY: 727094
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1792G>C (p.E598Q) alteration is located in exon 6 (coding exon 6) of the GUCY1A2 gene. This alteration results from a G to C substitution at nucleotide position 1792, causing the glutamic acid (E) at amino acid position 598 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