rs697636
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_182608.4(ANKRD33):c.419A>T(p.Tyr140Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.334 in 1,613,934 control chromosomes in the GnomAD database, including 93,587 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 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_182608.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ANKRD33 | NM_182608.4 | c.419A>T | p.Tyr140Phe | missense_variant | 3/5 | ENST00000301190.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD33 | ENST00000301190.11 | c.419A>T | p.Tyr140Phe | missense_variant | 3/5 | 2 | NM_182608.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.295 AC: 44808AN: 151966Hom.: 7398 Cov.: 32
GnomAD3 exomes AF: 0.352 AC: 88546AN: 251288Hom.: 16494 AF XY: 0.356 AC XY: 48380AN XY: 135818
GnomAD4 exome AF: 0.339 AC: 494841AN: 1461850Hom.: 86189 Cov.: 62 AF XY: 0.342 AC XY: 248557AN XY: 727232
GnomAD4 genome ? AF: 0.295 AC: 44814AN: 152084Hom.: 7398 Cov.: 32 AF XY: 0.303 AC XY: 22514AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at