NM_001010867.4:c.323A>G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PM5
The NM_001010867.4(IBA57):c.323A>G(p.Tyr108Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000197 in 1,521,786 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Y108S) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001010867.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152024Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000801 AC: 1AN: 124790Hom.: 0 AF XY: 0.0000144 AC XY: 1AN XY: 69606
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1369762Hom.: 0 Cov.: 33 AF XY: 0.00000296 AC XY: 2AN XY: 676094
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152024Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74254
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.323A>G (p.Y108C) alteration is located in exon 1 (coding exon 1) of the IBA57 gene. This alteration results from a A to G substitution at nucleotide position 323, causing the tyrosine (Y) at amino acid position 108 to be replaced by a cysteine (C). 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