16-89268543-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_013275.6(ANKRD11):c.7927G>A(p.Glu2643Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013275.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD11 | NM_013275.6 | c.7927G>A | p.Glu2643Lys | missense_variant | Exon 13 of 13 | ENST00000301030.10 | NP_037407.4 | |
ANKRD11 | NM_001256182.2 | c.7927G>A | p.Glu2643Lys | missense_variant | Exon 14 of 14 | NP_001243111.1 | ||
ANKRD11 | NM_001256183.2 | c.7927G>A | p.Glu2643Lys | missense_variant | Exon 13 of 13 | NP_001243112.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.46e-7 AC: 1AN: 1340614Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 661948
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not provided Uncertain:1
The E2643K variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E2643K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2643K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E2643K as a variant of uncertain significance -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at