ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.120del (p.Gly42fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338143 SCV004047099 likely pathogenic Leukocyte adhesion deficiency 3 criteria provided, single submitter clinical testing The frameshift deletion p.G42Afs*8 in ITGB2 (NM_000211.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G42Afs*8 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glycine 42, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Gly42AlafsTer8. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. The observed variant was also detected in the spouse.
Neuberg Centre For Genomic Medicine, NCGM RCV003338144 SCV004047106 likely pathogenic Leukocyte adhesion deficiency 1 criteria provided, single submitter clinical testing The frameshift deletion p.G42Afs*8 in ITGB2 (NM_000211.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G42Afs*8 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glycine 42, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Gly42AlafsTer8. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. The observed variant was also detected in the spouse.
CeGaT Center for Human Genetics Tuebingen RCV003886623 SCV004703219 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing ITGB2: PVS1, PM2, PM3

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