8-43122619-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_032237.5(POMK):c.795C>T(p.Asp265Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0026 in 1,614,146 control chromosomes in the GnomAD database, including 93 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_032237.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0142 AC: 2164AN: 152156Hom.: 51 Cov.: 33
GnomAD3 exomes AF: 0.00361 AC: 906AN: 251312Hom.: 16 AF XY: 0.00269 AC XY: 366AN XY: 135816
GnomAD4 exome AF: 0.00138 AC: 2023AN: 1461872Hom.: 41 Cov.: 33 AF XY: 0.00118 AC XY: 861AN XY: 727244
GnomAD4 genome AF: 0.0142 AC: 2168AN: 152274Hom.: 52 Cov.: 33 AF XY: 0.0142 AC XY: 1059AN XY: 74454
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
- -
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;C4015184:Limb-girdle muscular dystrophy due to POMK deficiency Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at