chr4-73076278-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 1P and 13B. PP2BP4_StrongBP6BS1BS2
The NM_032217.5(ANKRD17):āc.7765C>Gā(p.Pro2589Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0013 in 1,609,220 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_032217.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD17 | ENST00000358602.9 | c.7765C>G | p.Pro2589Ala | missense_variant | Exon 34 of 34 | 5 | NM_032217.5 | ENSP00000351416.4 | ||
ANKRD17 | ENST00000509867.6 | c.7426C>G | p.Pro2476Ala | missense_variant | Exon 34 of 34 | 1 | ENSP00000427151.2 | |||
ANKRD17 | ENST00000558247.5 | c.7414C>G | p.Pro2472Ala | missense_variant | Exon 34 of 34 | 1 | ENSP00000453434.1 | |||
ANKRD17 | ENST00000330838.10 | c.7012C>G | p.Pro2338Ala | missense_variant | Exon 33 of 33 | 2 | ENSP00000332265.6 |
Frequencies
GnomAD3 genomes AF: 0.000784 AC: 119AN: 151852Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000866 AC: 214AN: 247134Hom.: 0 AF XY: 0.000920 AC XY: 123AN XY: 133764
GnomAD4 exome AF: 0.00136 AC: 1976AN: 1457250Hom.: 2 Cov.: 30 AF XY: 0.00124 AC XY: 897AN XY: 724970
GnomAD4 genome AF: 0.000783 AC: 119AN: 151970Hom.: 0 Cov.: 32 AF XY: 0.000700 AC XY: 52AN XY: 74252
ClinVar
Submissions by phenotype
ANKRD17-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at