7-20367181-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002214.3(ITGB8):c.383G>A(p.Arg128His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000369 in 1,600,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002214.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITGB8 | ENST00000222573.5 | c.383G>A | p.Arg128His | missense_variant | 3/14 | 1 | NM_002214.3 | ENSP00000222573.3 | ||
ITGB8 | ENST00000477859.1 | n.2537G>A | non_coding_transcript_exon_variant | 1/2 | 1 | |||||
ITGB8 | ENST00000478974.1 | n.1088G>A | non_coding_transcript_exon_variant | 3/9 | 1 | |||||
ITGB8 | ENST00000537992.5 | c.-23G>A | 5_prime_UTR_variant | 4/15 | 2 | ENSP00000441561.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000579 AC: 14AN: 241632Hom.: 0 AF XY: 0.0000537 AC XY: 7AN XY: 130282
GnomAD4 exome AF: 0.0000366 AC: 53AN: 1448306Hom.: 0 Cov.: 28 AF XY: 0.0000305 AC XY: 22AN XY: 720186
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 08, 2024 | The c.383G>A (p.R128H) alteration is located in exon 3 (coding exon 3) of the ITGB8 gene. This alteration results from a G to A substitution at nucleotide position 383, causing the arginine (R) at amino acid position 128 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