rs144397517
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_001330063.2(ANKFY1):c.3171C>T(p.Ala1057Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000206 in 1,614,120 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001330063.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00125 AC: 190AN: 152114Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000293 AC: 73AN: 249490Hom.: 0 AF XY: 0.000251 AC XY: 34AN XY: 135354
GnomAD4 exome AF: 0.0000978 AC: 143AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000729 AC XY: 53AN XY: 727244
GnomAD4 genome AF: 0.00125 AC: 190AN: 152232Hom.: 2 Cov.: 32 AF XY: 0.00121 AC XY: 90AN XY: 74430
ClinVar
Submissions by phenotype
ANKFY1-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