chr7-151049289-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004769.4(ASIC3):c.404C>T(p.Pro135Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,612,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASIC3 | NM_004769.4 | c.404C>T | p.Pro135Leu | missense_variant | 1/11 | ENST00000349064.10 | |
ASIC3 | NM_020321.3 | c.404C>T | p.Pro135Leu | missense_variant | 1/11 | ||
ASIC3 | NM_020322.3 | c.404C>T | p.Pro135Leu | missense_variant | 1/10 | ||
ASIC3 | NR_046401.1 | n.998C>T | non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASIC3 | ENST00000349064.10 | c.404C>T | p.Pro135Leu | missense_variant | 1/11 | 1 | NM_004769.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000362 AC: 9AN: 248560Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134746
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1460358Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 726566
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at