3-15677540-A-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001349278.2(ANKRD28):c.2730T>G(p.Ser910Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,612,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD28 | NM_001349278.2 | c.2730T>G | p.Ser910Arg | missense_variant | Exon 25 of 28 | ENST00000683139.1 | NP_001336207.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248778Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134974
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460502Hom.: 0 Cov.: 29 AF XY: 0.0000179 AC XY: 13AN XY: 726554
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2640T>G (p.S880R) alteration is located in exon 25 (coding exon 25) of the ANKRD28 gene. This alteration results from a T to G substitution at nucleotide position 2640, causing the serine (S) at amino acid position 880 to be replaced by an arginine (R). 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