15-68307352-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004439.2(ITGA11):c.3377G>A(p.Arg1126His) variant causes a missense change. The variant allele was found at a frequency of 0.0000727 in 1,554,028 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004439.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITGA11 | NM_001004439.2 | c.3377G>A | p.Arg1126His | missense_variant | Exon 28 of 30 | ENST00000315757.9 | NP_001004439.1 | |
ITGA11 | XM_011521363.3 | c.3170G>A | p.Arg1057His | missense_variant | Exon 26 of 28 | XP_011519665.1 | ||
ITGA11 | XM_005254228.4 | c.3071G>A | p.Arg1024His | missense_variant | Exon 26 of 28 | XP_005254285.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITGA11 | ENST00000315757.9 | c.3377G>A | p.Arg1126His | missense_variant | Exon 28 of 30 | 1 | NM_001004439.2 | ENSP00000327290.7 | ||
ITGA11 | ENST00000423218.6 | c.3380G>A | p.Arg1127His | missense_variant | Exon 28 of 30 | 2 | ENSP00000403392.2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000431 AC: 7AN: 162478Hom.: 0 AF XY: 0.0000465 AC XY: 4AN XY: 86046
GnomAD4 exome AF: 0.0000749 AC: 105AN: 1401842Hom.: 0 Cov.: 30 AF XY: 0.0000506 AC XY: 35AN XY: 691846
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3377G>A (p.R1126H) alteration is located in exon 28 (coding exon 28) of the ITGA11 gene. This alteration results from a G to A substitution at nucleotide position 3377, causing the arginine (R) at amino acid position 1126 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at