19-17283315-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152363.6(ANKLE1):āc.551T>Gā(p.Leu184Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.505 in 1,613,080 control chromosomes in the GnomAD database, including 206,875 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_152363.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKLE1 | NM_152363.6 | c.551T>G | p.Leu184Trp | missense_variant | Exon 5 of 9 | ENST00000404085.7 | NP_689576.6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.499 AC: 75739AN: 151762Hom.: 18954 Cov.: 31
GnomAD3 exomes AF: 0.483 AC: 120923AN: 250576Hom.: 29811 AF XY: 0.486 AC XY: 65943AN XY: 135588
GnomAD4 exome AF: 0.505 AC: 738578AN: 1461200Hom.: 187900 Cov.: 85 AF XY: 0.504 AC XY: 366442AN XY: 726894
GnomAD4 genome AF: 0.499 AC: 75812AN: 151880Hom.: 18975 Cov.: 31 AF XY: 0.499 AC XY: 37012AN XY: 74218
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at