chr7-151049265-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004769.4(ASIC3):c.380G>T(p.Arg127Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R127H) has been classified as Benign.
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.380G>T | p.Arg127Leu | missense_variant | 1/11 | ENST00000349064.10 | |
ASIC3 | NM_020321.3 | c.380G>T | p.Arg127Leu | missense_variant | 1/11 | ||
ASIC3 | NM_020322.3 | c.380G>T | p.Arg127Leu | missense_variant | 1/10 | ||
ASIC3 | NR_046401.1 | n.974G>T | non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASIC3 | ENST00000349064.10 | c.380G>T | p.Arg127Leu | missense_variant | 1/11 | 1 | NM_004769.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.