rs111292798
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBS1BS2
The NM_000173.7(GP1BA):āc.106A>Gā(p.Arg36Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00103 in 1,613,966 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_000173.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GP1BA | NM_000173.7 | c.106A>G | p.Arg36Gly | missense_variant | 2/2 | ENST00000329125.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GP1BA | ENST00000329125.6 | c.106A>G | p.Arg36Gly | missense_variant | 2/2 | 1 | NM_000173.7 | P1 | |
CHRNE | ENST00000649830.1 | c.-888+1632T>C | intron_variant |
Frequencies
GnomAD3 genomes AF: 0.00486 AC: 740AN: 152142Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00155 AC: 387AN: 249334Hom.: 6 AF XY: 0.00112 AC XY: 152AN XY: 135238
GnomAD4 exome AF: 0.000635 AC: 928AN: 1461706Hom.: 14 Cov.: 37 AF XY: 0.000520 AC XY: 378AN XY: 727136
GnomAD4 genome AF: 0.00487 AC: 741AN: 152260Hom.: 5 Cov.: 32 AF XY: 0.00445 AC XY: 331AN XY: 74456
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Sep 20, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2023 | GP1BA: BS1 - |
Bernard Soulier syndrome;C1280798:Pseudo von Willebrand disease;C1847711:Nonarteritic anterior ischemic optic neuropathy, susceptibility to;C3277076:Bernard-Soulier syndrome, type A2, autosomal dominant Benign:1
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Apr 26, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at