15-40281520-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001190479.3(ANKRD63):c.1067C>T(p.Ala356Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000157 in 1,520,604 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001190479.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD63 | NM_001190479.3 | c.1067C>T | p.Ala356Val | missense_variant | 1/1 | ENST00000434396.2 | NP_001177408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD63 | ENST00000434396.2 | c.1067C>T | p.Ala356Val | missense_variant | 1/1 | 6 | NM_001190479.3 | ENSP00000399547.1 | ||
PLCB2 | ENST00000560009.1 | n.394+2919C>T | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000339 AC: 4AN: 118116Hom.: 0 AF XY: 0.0000461 AC XY: 3AN XY: 65062
GnomAD4 exome AF: 0.000167 AC: 228AN: 1368400Hom.: 0 Cov.: 35 AF XY: 0.000162 AC XY: 109AN XY: 674344
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 34 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 11, 2024 | The c.1067C>T (p.A356V) alteration is located in exon 1 (coding exon 1) of the ANKRD63 gene. This alteration results from a C to T substitution at nucleotide position 1067, causing the alanine (A) at amino acid position 356 to be replaced by a valine (V). 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