7-151049216-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004769.4(ASIC3):c.331G>A(p.Gly111Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,612,424 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004769.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASIC3 | NM_004769.4 | c.331G>A | p.Gly111Arg | missense_variant | Exon 1 of 11 | ENST00000349064.10 | NP_004760.1 | |
ASIC3 | NM_020321.3 | c.331G>A | p.Gly111Arg | missense_variant | Exon 1 of 11 | NP_064717.1 | ||
ASIC3 | NM_020322.3 | c.331G>A | p.Gly111Arg | missense_variant | Exon 1 of 10 | NP_064718.1 | ||
ASIC3 | NR_046401.1 | n.925G>A | non_coding_transcript_exon_variant | Exon 1 of 10 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249156Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134818
GnomAD4 exome AF: 0.0000158 AC: 23AN: 1460056Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726218
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152368Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.331G>A (p.G111R) alteration is located in exon 1 (coding exon 1) of the ASIC3 gene. This alteration results from a G to A substitution at nucleotide position 331, causing the glycine (G) at amino acid position 111 to be replaced by an arginine (R). 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