5-75091401-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001372053.1(ANKRD31):c.5332G>A(p.Glu1778Lys) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000263 in 1,520,180 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001372053.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD31 | NM_001372053.1 | c.5332G>A | p.Glu1778Lys | missense_variant, splice_region_variant | Exon 23 of 26 | ENST00000506364.6 | NP_001358982.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151988Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000793 AC: 1AN: 126098Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67582
GnomAD4 exome AF: 7.31e-7 AC: 1AN: 1368192Hom.: 0 Cov.: 31 AF XY: 0.00000148 AC XY: 1AN XY: 674562
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151988Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5161G>A (p.E1721K) alteration is located in exon 22 (coding exon 22) of the ANKRD31 gene. This alteration results from a G to A substitution at nucleotide position 5161, causing the glutamic acid (E) at amino acid position 1721 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