2-160101834-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000888.5(ITGB6):c.2269G>A(p.Gly757Arg) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000218 in 1,374,302 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G757G) has been classified as Benign.
Frequency
Consequence
NM_000888.5 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITGB6 | NM_000888.5 | c.2269G>A | p.Gly757Arg | missense_variant, splice_region_variant | 15/15 | ENST00000283249.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGB6 | ENST00000283249.7 | c.2269G>A | p.Gly757Arg | missense_variant, splice_region_variant | 15/15 | 1 | NM_000888.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD3 exomes AF: 0.0000166 AC: 2AN: 120796Hom.: 0 AF XY: 0.0000146 AC XY: 1AN XY: 68560
GnomAD4 exome AF: 0.00000218 AC: 3AN: 1374302Hom.: 0 Cov.: 23 AF XY: 0.00000291 AC XY: 2AN XY: 687644
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at