10-5666541-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024701.4(ASB13):c.11G>A(p.Arg4Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000218 in 1,240,274 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024701.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB13 | NM_024701.4 | c.11G>A | p.Arg4Gln | missense_variant | Exon 1 of 6 | ENST00000357700.11 | NP_078977.2 | |
ASB13 | NR_024581.2 | n.55G>A | non_coding_transcript_exon_variant | Exon 1 of 5 | ||||
ASB13 | NR_037164.2 | n.55G>A | non_coding_transcript_exon_variant | Exon 1 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB13 | ENST00000357700.11 | c.11G>A | p.Arg4Gln | missense_variant | Exon 1 of 6 | 1 | NM_024701.4 | ENSP00000350331.6 | ||
ASB13 | ENST00000459912.5 | n.11G>A | non_coding_transcript_exon_variant | Exon 1 of 7 | 1 | ENSP00000433358.1 | ||||
ASB13 | ENST00000479033.1 | n.55G>A | non_coding_transcript_exon_variant | Exon 1 of 5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000133 AC: 20AN: 150704Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000643 AC: 7AN: 1089462Hom.: 0 Cov.: 31 AF XY: 0.0000114 AC XY: 6AN XY: 524242
GnomAD4 genome AF: 0.000133 AC: 20AN: 150812Hom.: 0 Cov.: 33 AF XY: 0.0000543 AC XY: 4AN XY: 73662
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.11G>A (p.R4Q) alteration is located in exon 1 (coding exon 1) of the ASB13 gene. This alteration results from a G to A substitution at nucleotide position 11, causing the arginine (R) at amino acid position 4 to be replaced by a glutamine (Q). 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