rs151020006
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_173600.2(MUC19):āc.3705C>Gā(p.Asp1235Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,172 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D1235D) has been classified as Likely benign.
Frequency
Consequence
NM_173600.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC19 | NM_173600.2 | c.3705C>G | p.Asp1235Glu | missense_variant | Exon 31 of 172 | NP_775871.2 | ||
LOC105369736 | XR_007063562.1 | n.74+2679G>C | intron_variant | Intron 1 of 4 | ||||
LOC105369736 | XR_944866.1 | n.74+2679G>C | intron_variant | Intron 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152172Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1151836Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 564768
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at