rs78165611
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_000419.5(ITGA2B):c.2965G>T(p.Ala989Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A989T) has been classified as Likely benign.
Frequency
Consequence
NM_000419.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITGA2B | NM_000419.5 | c.2965G>T | p.Ala989Ser | missense_variant | 29/30 | ENST00000262407.6 | |
ITGA2B | XM_011524749.2 | c.3016G>T | p.Ala1006Ser | missense_variant | 28/29 | ||
ITGA2B | XM_011524750.2 | c.3096+210G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGA2B | ENST00000262407.6 | c.2965G>T | p.Ala989Ser | missense_variant | 29/30 | 1 | NM_000419.5 | P1 | |
ITGA2B | ENST00000587295.5 | c.253+1384G>T | intron_variant | 3 | |||||
ITGA2B | ENST00000648408.1 | c.2374+210G>T | intron_variant | ||||||
ITGA2B | ENST00000592462.5 | n.2664G>T | non_coding_transcript_exon_variant | 15/15 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at