2-196993631-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001195144.2(ANKRD44):c.2875G>A(p.Glu959Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000786 in 1,398,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001195144.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD44 | ENST00000282272.15 | c.2875G>A | p.Glu959Lys | missense_variant | Exon 27 of 28 | 5 | NM_001195144.2 | ENSP00000282272.9 | ||
ANKRD44 | ENST00000424317.5 | c.2320G>A | p.Glu774Lys | missense_variant | Exon 21 of 22 | 1 | ENSP00000403415.1 | |||
ANKRD44 | ENST00000647377.1 | c.2875G>A | p.Glu959Lys | missense_variant | Exon 27 of 28 | ENSP00000496628.1 | ||||
ANKRD44 | ENST00000486006.1 | n.8G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000786 AC: 11AN: 1398766Hom.: 0 Cov.: 31 AF XY: 0.00000435 AC XY: 3AN XY: 689884
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2875G>A (p.E959K) alteration is located in exon 27 (coding exon 27) of the ANKRD44 gene. This alteration results from a G to A substitution at nucleotide position 2875, causing the glutamic acid (E) at amino acid position 959 to be replaced by a lysine (K). 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