17-50076635-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002204.4(ITGA3):āc.1876C>Gā(p.Gln626Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002204.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITGA3 | NM_002204.4 | c.1876C>G | p.Gln626Glu | missense_variant | 14/26 | ENST00000320031.13 | NP_002195.1 | |
ITGA3 | XM_005257308.3 | c.1471C>G | p.Gln491Glu | missense_variant | 12/24 | XP_005257365.1 | ||
ITGA3 | XM_047435922.1 | c.1876C>G | p.Gln626Glu | missense_variant | 14/18 | XP_047291878.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITGA3 | ENST00000320031.13 | c.1876C>G | p.Gln626Glu | missense_variant | 14/26 | 1 | NM_002204.4 | ENSP00000315190 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247432Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134238
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461382Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726990
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at