2-9478353-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_001039613.3(IAH1):āc.266A>Gā(p.Asn89Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000824 in 1,455,632 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 (ā ).
Frequency
Consequence
NM_001039613.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IAH1 | NM_001039613.3 | c.266A>G | p.Asn89Ser | missense_variant | Exon 3 of 6 | ENST00000497473.6 | NP_001034702.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245712Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133282
GnomAD4 exome AF: 0.00000824 AC: 12AN: 1455632Hom.: 0 Cov.: 30 AF XY: 0.00000829 AC XY: 6AN XY: 723454
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.266A>G (p.N89S) alteration is located in exon 3 (coding exon 3) of the IAH1 gene. This alteration results from a A to G substitution at nucleotide position 266, causing the asparagine (N) at amino acid position 89 to be replaced by a serine (S). 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