rs9333289
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002210.5(ITGAV):c.631+6T>A variant causes a splice region, intron 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. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002210.5 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITGAV | NM_002210.5 | c.631+6T>A | splice_region_variant, intron_variant | ENST00000261023.8 | NP_002201.2 | |||
ITGAV | NM_001145000.3 | c.524-2702T>A | intron_variant | NP_001138472.2 | ||||
ITGAV | NM_001144999.3 | c.493+6T>A | splice_region_variant, intron_variant | NP_001138471.2 | ||||
ITGAV | XM_047444225.1 | c.-213+6T>A | splice_region_variant, intron_variant | XP_047300181.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITGAV | ENST00000261023.8 | c.631+6T>A | splice_region_variant, intron_variant | 1 | NM_002210.5 | ENSP00000261023.3 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1394266Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 696168
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at