rs36080296
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000212.3(ITGB3):āc.197T>Cā(p.Leu66Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000212.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITGB3 | ENST00000559488.7 | c.197T>C | p.Leu66Pro | missense_variant | Exon 3 of 15 | 1 | NM_000212.3 | ENSP00000452786.2 | ||
ITGB3 | ENST00000571680.1 | c.197T>C | p.Leu66Pro | missense_variant | Exon 3 of 9 | 1 | ENSP00000461626.1 | |||
ENSG00000259753 | ENST00000560629.1 | n.161T>C | non_coding_transcript_exon_variant | Exon 3 of 18 | 2 | ENSP00000456711.2 | ||||
ITGB3 | ENST00000696963.1 | c.197T>C | p.Leu66Pro | missense_variant | Exon 3 of 14 | ENSP00000513002.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461890Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.