chr12-56244951-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173595.4(ANKRD52):c.2531G>A(p.Gly844Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173595.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD52 | NM_173595.4 | c.2531G>A | p.Gly844Glu | missense_variant | Exon 23 of 28 | ENST00000267116.8 | NP_775866.2 | |
ANKRD52 | XM_017019183.2 | c.2528G>A | p.Gly843Glu | missense_variant | Exon 22 of 27 | XP_016874672.1 | ||
ANKRD52 | XM_011538197.3 | c.2348G>A | p.Gly783Glu | missense_variant | Exon 22 of 27 | XP_011536499.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249204Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135204
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461702Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727136
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2531G>A (p.G844E) alteration is located in exon 23 (coding exon 23) of the ANKRD52 gene. This alteration results from a G to A substitution at nucleotide position 2531, causing the glycine (G) at amino acid position 844 to be replaced by a glutamic acid (E). 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