rs2933353
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173600.2(MUC19):āc.5285A>Cā(p.Glu1762Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.743 in 1,303,668 control chromosomes in the GnomAD database, including 361,289 homozygotes. In-silico tool predicts a benign outcome for this variant. 4/4 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_173600.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC19 | NM_173600.2 | c.5285A>C | p.Glu1762Ala | missense_variant | 47/172 | NP_775871.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC19 | ENST00000454784.10 | c.5285A>C | p.Glu1762Ala | missense_variant | 47/173 | 5 | ENSP00000508949.1 |
Frequencies
GnomAD3 genomes AF: 0.704 AC: 106894AN: 151836Hom.: 38197 Cov.: 31
GnomAD3 exomes AF: 0.758 AC: 112635AN: 148642Hom.: 42977 AF XY: 0.764 AC XY: 61137AN XY: 80038
GnomAD4 exome AF: 0.748 AC: 861076AN: 1151714Hom.: 323059 Cov.: 45 AF XY: 0.751 AC XY: 424039AN XY: 564764
GnomAD4 genome AF: 0.704 AC: 106977AN: 151954Hom.: 38230 Cov.: 31 AF XY: 0.709 AC XY: 52672AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at