3-15679506-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001349278.2(ANKRD28):c.2447G>A(p.Gly816Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,742 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001349278.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD28 | NM_001349278.2 | c.2447G>A | p.Gly816Glu | missense_variant | Exon 22 of 28 | ENST00000683139.1 | NP_001336207.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000683 AC: 17AN: 248748Hom.: 0 AF XY: 0.0000741 AC XY: 10AN XY: 134952
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461560Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727048
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2357G>A (p.G786E) alteration is located in exon 22 (coding exon 22) of the ANKRD28 gene. This alteration results from a G to A substitution at nucleotide position 2357, causing the glycine (G) at amino acid position 786 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