4-176222419-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_080874.4(ASB5):c.278G>A(p.Gly93Asp) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000686 in 1,457,900 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G93S) has been classified as Uncertain significance.
Frequency
Consequence
NM_080874.4 missense, splice_region
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 |
---|---|---|---|---|---|---|---|---|
ASB5 | NM_080874.4 | c.278G>A | p.Gly93Asp | missense_variant, splice_region_variant | Exon 3 of 7 | ENST00000296525.7 | NP_543150.1 | |
ASB5 | NM_001410863.1 | c.143G>A | p.Gly48Asp | missense_variant, splice_region_variant | Exon 3 of 7 | NP_001397792.1 | ||
ASB5 | XM_005262759.2 | c.278G>A | p.Gly93Asp | missense_variant, splice_region_variant | Exon 5 of 9 | XP_005262816.1 | ||
ASB5 | XM_011531617.4 | c.119G>A | p.Gly40Asp | missense_variant, splice_region_variant | Exon 3 of 7 | XP_011529919.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB5 | ENST00000296525.7 | c.278G>A | p.Gly93Asp | missense_variant, splice_region_variant | Exon 3 of 7 | 1 | NM_080874.4 | ENSP00000296525.3 | ||
ASB5 | ENST00000672074.1 | c.143G>A | p.Gly48Asp | missense_variant, splice_region_variant | Exon 3 of 7 | ENSP00000500617.1 | ||||
ASB5 | ENST00000512254.1 | c.119G>A | p.Gly40Asp | missense_variant, splice_region_variant | Exon 3 of 7 | 2 | ENSP00000422877.1 | |||
ASB5 | ENST00000511879.1 | n.363G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 3 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457900Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725476
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.