7-151049017-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004769.4(ASIC3):c.132G>A(p.Met44Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000822 in 1,460,394 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004769.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASIC3 | NM_004769.4 | c.132G>A | p.Met44Ile | missense_variant | Exon 1 of 11 | ENST00000349064.10 | NP_004760.1 | |
ASIC3 | NM_020321.3 | c.132G>A | p.Met44Ile | missense_variant | Exon 1 of 11 | NP_064717.1 | ||
ASIC3 | NM_020322.3 | c.132G>A | p.Met44Ile | missense_variant | Exon 1 of 10 | NP_064718.1 | ||
ASIC3 | NR_046401.1 | n.726G>A | non_coding_transcript_exon_variant | Exon 1 of 10 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000520 AC: 13AN: 249938Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135248
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1460394Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 726552
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.132G>A (p.M44I) 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 132, causing the methionine (M) at amino acid position 44 to be replaced by an isoleucine (I). 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