19-48742234-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182575.3(IZUMO1):c.575G>A(p.Gly192Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,648 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182575.3 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 |
---|---|---|---|---|---|---|---|---|
IZUMO1 | NM_182575.3 | c.575G>A | p.Gly192Asp | missense_variant | Exon 7 of 10 | ENST00000332955.7 | NP_872381.2 | |
IZUMO1 | NM_001321864.1 | c.236G>A | p.Gly79Asp | missense_variant | Exon 6 of 9 | NP_001308793.1 | ||
IZUMO1 | NM_001321865.1 | c.53G>A | p.Gly18Asp | missense_variant | Exon 6 of 9 | NP_001308794.1 | ||
IZUMO1 | NR_135832.1 | n.581G>A | non_coding_transcript_exon_variant | Exon 6 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251484Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461648Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727124
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575G>A (p.G192D) alteration is located in exon 7 (coding exon 6) of the IZUMO1 gene. This alteration results from a G to A substitution at nucleotide position 575, causing the glycine (G) at amino acid position 192 to be replaced by an aspartic acid (D). 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