X-64225208-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_130388.4(ASB12):c.443G>A(p.Arg148His) variant causes a missense change. The variant allele was found at a frequency of 0.0000446 in 1,209,929 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 13 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R148C) has been classified as Uncertain significance.
Frequency
Consequence
NM_130388.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB12 | NM_130388.4 | c.443G>A | p.Arg148His | missense_variant | Exon 2 of 3 | ENST00000362002.3 | NP_569059.3 | |
LOC112268307 | XM_047442705.1 | c.125+18168C>T | intron_variant | Intron 2 of 4 | XP_047298661.1 | |||
LOC112268307 | XM_047442706.1 | c.125+18168C>T | intron_variant | Intron 2 of 3 | XP_047298662.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 111846Hom.: 0 Cov.: 22 AF XY: 0.0000588 AC XY: 2AN XY: 34016
GnomAD3 exomes AF: 0.0000713 AC: 13AN: 182403Hom.: 0 AF XY: 0.0000149 AC XY: 1AN XY: 66907
GnomAD4 exome AF: 0.0000464 AC: 51AN: 1098027Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 11AN XY: 363389
GnomAD4 genome AF: 0.0000268 AC: 3AN: 111902Hom.: 0 Cov.: 22 AF XY: 0.0000587 AC XY: 2AN XY: 34082
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.443G>A (p.R148H) alteration is located in exon 2 (coding exon 1) of the ASB12 gene. This alteration results from a G to A substitution at nucleotide position 443, causing the arginine (R) at amino acid position 148 to be replaced by a histidine (H). 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