10-5651305-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024701.4(ASB13):c.290G>T(p.Ser97Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. S97R) has been classified 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB13 | NM_024701.4 | c.290G>T | p.Ser97Ile | missense_variant | Exon 3 of 6 | ENST00000357700.11 | NP_078977.2 | |
ASB13 | NR_037164.2 | n.334G>T | non_coding_transcript_exon_variant | Exon 3 of 7 | ||||
ASB13 | NR_024581.2 | n.275+1558G>T | intron_variant | Intron 2 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB13 | ENST00000357700.11 | c.290G>T | p.Ser97Ile | missense_variant | Exon 3 of 6 | 1 | NM_024701.4 | ENSP00000350331.6 | ||
ASB13 | ENST00000459912.5 | n.290G>T | non_coding_transcript_exon_variant | Exon 3 of 7 | 1 | ENSP00000433358.1 | ||||
ASB13 | ENST00000482921.1 | n.264G>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 | |||||
ASB13 | ENST00000479033.1 | n.275+1558G>T | intron_variant | Intron 2 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727138
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.290G>T (p.S97I) alteration is located in exon 3 (coding exon 3) of the ASB13 gene. This alteration results from a G to T substitution at nucleotide position 290, causing the serine (S) at amino acid position 97 to be replaced by an isoleucine (I). 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