3-15679314-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001349278.2(ANKRD28):c.2548G>A(p.Asp850Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,794 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
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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.2548G>A | p.Asp850Asn | missense_variant | Exon 23 of 28 | ENST00000683139.1 | NP_001336207.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248876Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134994
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727116
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2458G>A (p.D820N) alteration is located in exon 23 (coding exon 23) of the ANKRD28 gene. This alteration results from a G to A substitution at nucleotide position 2458, causing the aspartic acid (D) at amino acid position 820 to be replaced by an asparagine (N). 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