10-60278789-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020987.5(ANK3):āc.399C>Gā(p.Val133=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000372 in 1,613,444 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. V133V) has been classified as Likely benign.
Frequency
Consequence
NM_020987.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANK3 | NM_020987.5 | c.399C>G | p.Val133= | synonymous_variant | 4/44 | ENST00000280772.7 | |
ANK3 | NM_001204404.2 | c.348C>G | p.Val116= | synonymous_variant | 4/44 | ||
ANK3 | NM_001320874.2 | c.399C>G | p.Val133= | synonymous_variant | 4/43 | ||
ANK3 | NM_001204403.2 | c.381C>G | p.Val127= | synonymous_variant | 5/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANK3 | ENST00000280772.7 | c.399C>G | p.Val133= | synonymous_variant | 4/44 | 1 | NM_020987.5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152120Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461324Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727008
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at