11-26660315-A-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_031418.4(ANO3):c.2817A>T(p.Pro939=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. P939P) has been classified as Likely benign.
Frequency
Consequence
NM_031418.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANO3 | NM_031418.4 | c.2817A>T | p.Pro939= | synonymous_variant | 27/27 | ENST00000256737.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANO3 | ENST00000256737.8 | c.2817A>T | p.Pro939= | synonymous_variant | 27/27 | 1 | NM_031418.4 | P3 | |
ANO3 | ENST00000672621.1 | c.3000A>T | p.Pro1000= | synonymous_variant | 28/28 | ||||
ANO3 | ENST00000525139.5 | c.2769A>T | p.Pro923= | synonymous_variant | 27/27 | 5 | |||
ANO3 | ENST00000531568.1 | c.2379A>T | p.Pro793= | synonymous_variant | 24/24 | 2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at