18-23601263-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173505.4(ANKRD29):c.869G>A(p.Arg290His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000514 in 1,613,868 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173505.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000178 AC: 27AN: 152066Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000915 AC: 23AN: 251402Hom.: 1 AF XY: 0.000103 AC XY: 14AN XY: 135898
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461802Hom.: 1 Cov.: 30 AF XY: 0.0000440 AC XY: 32AN XY: 727196
GnomAD4 genome AF: 0.000178 AC: 27AN: 152066Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.869G>A (p.R290H) alteration is located in exon 10 (coding exon 10) of the ANKRD29 gene. This alteration results from a G to A substitution at nucleotide position 869, causing the arginine (R) at amino acid position 290 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at