4-176222320-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.377G>A(p.Gly126Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,610,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080874.4 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 |
---|---|---|---|---|---|---|---|---|
ASB5 | NM_080874.4 | c.377G>A | p.Gly126Glu | missense_variant | Exon 3 of 7 | ENST00000296525.7 | NP_543150.1 | |
ASB5 | NM_001410863.1 | c.242G>A | p.Gly81Glu | missense_variant | Exon 3 of 7 | NP_001397792.1 | ||
ASB5 | XM_005262759.2 | c.377G>A | p.Gly126Glu | missense_variant | Exon 5 of 9 | XP_005262816.1 | ||
ASB5 | XM_011531617.4 | c.218G>A | p.Gly73Glu | missense_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.377G>A | p.Gly126Glu | missense_variant | Exon 3 of 7 | 1 | NM_080874.4 | ENSP00000296525.3 | ||
ASB5 | ENST00000672074.1 | c.242G>A | p.Gly81Glu | missense_variant | Exon 3 of 7 | ENSP00000500617.1 | ||||
ASB5 | ENST00000512254.1 | c.218G>A | p.Gly73Glu | missense_variant | Exon 3 of 7 | 2 | ENSP00000422877.1 | |||
ASB5 | ENST00000511879.1 | n.462G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251288Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135818
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1458122Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 725660
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.377G>A (p.G126E) alteration is located in exon 3 (coding exon 3) of the ASB5 gene. This alteration results from a G to A substitution at nucleotide position 377, causing the glycine (G) at amino acid position 126 to be replaced by a glutamic acid (E). 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