rs12179536
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001395414.1(MUC22):āc.382A>Gā(p.Ile128Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.181 in 1,534,794 control chromosomes in the GnomAD database, including 27,891 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001395414.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC22 | NM_001395414.1 | c.382A>G | p.Ile128Val | missense_variant | 2/4 | ENST00000561890.1 | |
MUC22 | NM_001318484.1 | c.391A>G | p.Ile131Val | missense_variant | 3/5 | ||
MUC22 | NM_001198815.1 | c.382A>G | p.Ile128Val | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC22 | ENST00000561890.1 | c.382A>G | p.Ile128Val | missense_variant | 2/4 | 2 | NM_001395414.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.165 AC: 25052AN: 151954Hom.: 2393 Cov.: 32
GnomAD3 exomes AF: 0.223 AC: 28617AN: 128570Hom.: 3677 AF XY: 0.228 AC XY: 16065AN XY: 70328
GnomAD4 exome AF: 0.182 AC: 252111AN: 1382720Hom.: 25494 Cov.: 83 AF XY: 0.188 AC XY: 128369AN XY: 682262
GnomAD4 genome AF: 0.165 AC: 25061AN: 152074Hom.: 2397 Cov.: 32 AF XY: 0.168 AC XY: 12503AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at