12-40486582-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The ENST00000454784.10(MUC19):āc.13630A>Gā(p.Thr4544Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00004 in 150,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 4/4 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
ENST00000454784.10 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC19 | NM_173600.2 | c.13629A>G | p.Gly4543Gly | synonymous_variant | 57/172 | NP_775871.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC19 | ENST00000454784.10 | c.13630A>G | p.Thr4544Ala | missense_variant | 56/173 | 5 | ENSP00000508949.1 |
Frequencies
GnomAD3 genomes AF: 0.0000400 AC: 6AN: 149986Hom.: 0 Cov.: 44
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 833296Hom.: 0 Cov.: 113 AF XY: 0.00 AC XY: 0AN XY: 384796
GnomAD4 genome AF: 0.0000400 AC: 6AN: 150100Hom.: 0 Cov.: 44 AF XY: 0.0000545 AC XY: 4AN XY: 73346
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Oct 01, 2022 | MUC19: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at