2-9488307-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001039613.3(IAH1):āc.725T>Cā(p.Leu242Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000354 in 1,608,246 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IAH1 | NM_001039613.3 | c.725T>C | p.Leu242Pro | missense_variant | Exon 6 of 6 | ENST00000497473.6 | NP_001034702.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000206 AC: 5AN: 242340Hom.: 0 AF XY: 0.0000304 AC XY: 4AN XY: 131768
GnomAD4 exome AF: 0.0000357 AC: 52AN: 1456028Hom.: 0 Cov.: 30 AF XY: 0.0000400 AC XY: 29AN XY: 724440
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.725T>C (p.L242P) alteration is located in exon 6 (coding exon 6) of the IAH1 gene. This alteration results from a T to C substitution at nucleotide position 725, causing the leucine (L) at amino acid position 242 to be replaced by a proline (P). 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