17-44372407-CG-GC
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
This summary comes from the ClinGen Evidence Repository: The NM_000419.5:c.3076_3077delinsGC results in a missense change, Arg1026Ala. The variant is absent gnomAD v2.1.1 and v3. PMID:12575292 reports on the variant, but the evidence does not meet GT criteria for phenotype or functional studies. In summary, there is insufficient evidence at this time to classify this variant. GT-specific criteria met: PM2_Supporting. LINK:https://erepo.genome.network/evrepo/ui/classification/CA915940802/MONDO:0010119/011
Frequency
Consequence
NM_000419.5 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 | UniProt |
---|---|---|---|---|---|---|---|
ITGA2B | NM_000419.5 | c.3076_3077delinsGC | p.Arg1026Ala | missense_variant | 30/30 | ENST00000262407.6 | |
ITGA2B | XM_011524749.2 | c.3127_3128delinsGC | p.Arg1043Ala | missense_variant | 29/29 | ||
ITGA2B | XM_011524750.2 | c.3112_3113delinsGC | p.Arg1038Ala | missense_variant | 29/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGA2B | ENST00000262407.6 | c.3076_3077delinsGC | p.Arg1026Ala | missense_variant | 30/30 | 1 | NM_000419.5 | P1 | |
ITGA2B | ENST00000587295.5 | c.269_270delinsGC | p.Arg91Ala | missense_variant | 3/3 | 3 | |||
ITGA2B | ENST00000648408.1 | c.2390_2391delinsGC | p.Arg798Ala | missense_variant | 25/25 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Glanzmann thrombasthenia Uncertain:1
Uncertain significance, reviewed by expert panel | curation | ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen | Nov 02, 2023 | The NM_000419.5:c.3076_3077delinsGC results in a missense change, Arg1026Ala. The variant is absent gnomAD v2.1.1 and v3. PMID: 12575292 reports on the variant, but the evidence does not meet GT criteria for phenotype or functional studies. In summary, there is insufficient evidence at this time to classify this variant. GT-specific criteria met: PM2_Supporting. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at