chr8-100529697-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001270377.2(ANKRD46):c.137G>A(p.Arg46Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,894 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001270377.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD46 | NM_001270377.2 | c.137G>A | p.Arg46Lys | missense_variant | Exon 3 of 5 | ENST00000335659.7 | NP_001257306.1 | |
ANKRD46 | NM_001270379.2 | c.137G>A | p.Arg46Lys | missense_variant | Exon 3 of 6 | NP_001257308.1 | ||
ANKRD46 | NM_001270378.2 | c.137G>A | p.Arg46Lys | missense_variant | Exon 3 of 5 | NP_001257307.1 | ||
ANKRD46 | NM_198401.4 | c.137G>A | p.Arg46Lys | missense_variant | Exon 4 of 6 | NP_940683.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251350Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135840
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.137G>A (p.R46K) alteration is located in exon 4 (coding exon 1) of the ANKRD46 gene. This alteration results from a G to A substitution at nucleotide position 137, causing the arginine (R) at amino acid position 46 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