rs11766125
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001164462.2(MUC12):āc.14273C>Gā(p.Thr4758Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.509 in 1,537,424 control chromosomes in the GnomAD database, including 201,039 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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_001164462.2 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 |
---|---|---|---|---|---|---|---|
MUC12 | NM_001164462.2 | c.14273C>G | p.Thr4758Arg | missense_variant | 2/12 | ENST00000536621.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC12 | ENST00000536621.6 | c.14273C>G | p.Thr4758Arg | missense_variant | 2/12 | 5 | NM_001164462.2 | A2 | |
MUC12 | ENST00000379442.7 | c.14702C>G | p.Thr4901Arg | missense_variant | 5/15 | 5 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.468 AC: 71085AN: 151752Hom.: 16968 Cov.: 31
GnomAD3 exomes AF: 0.483 AC: 70743AN: 146590Hom.: 17435 AF XY: 0.487 AC XY: 37906AN XY: 77788
GnomAD4 exome AF: 0.513 AC: 711396AN: 1385554Hom.: 184072 Cov.: 78 AF XY: 0.513 AC XY: 351029AN XY: 683670
GnomAD4 genome ? AF: 0.468 AC: 71111AN: 151870Hom.: 16967 Cov.: 31 AF XY: 0.465 AC XY: 34495AN XY: 74206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at