8-100529794-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001270377.2(ANKRD46):c.40G>A(p.Val14Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000204 in 1,614,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD46 | NM_001270377.2 | c.40G>A | p.Val14Met | missense_variant | Exon 3 of 5 | ENST00000335659.7 | NP_001257306.1 | |
ANKRD46 | NM_001270379.2 | c.40G>A | p.Val14Met | missense_variant | Exon 3 of 6 | NP_001257308.1 | ||
ANKRD46 | NM_001270378.2 | c.40G>A | p.Val14Met | missense_variant | Exon 3 of 5 | NP_001257307.1 | ||
ANKRD46 | NM_198401.4 | c.40G>A | p.Val14Met | missense_variant | Exon 4 of 6 | NP_940683.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250904Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135622
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727240
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.40G>A (p.V14M) 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 40, causing the valine (V) at amino acid position 14 to be replaced by a methionine (M). 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