22-19724013-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000407.5(GP1BB):c.170C>T(p.Thr57Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000217 in 1,385,354 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000407.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GP1BB | NM_000407.5 | c.170C>T | p.Thr57Ile | missense_variant | 2/2 | ENST00000366425.4 | |
SEPT5-GP1BB | NR_037611.1 | n.3910C>T | non_coding_transcript_exon_variant | 12/12 | |||
SEPT5-GP1BB | NR_037612.1 | n.2414C>T | non_coding_transcript_exon_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GP1BB | ENST00000366425.4 | c.170C>T | p.Thr57Ile | missense_variant | 2/2 | 1 | NM_000407.5 | P1 | |
SEPTIN5 | ENST00000470814.1 | n.2142C>T | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000217 AC: 3AN: 1385354Hom.: 0 Cov.: 32 AF XY: 0.00000146 AC XY: 1AN XY: 685408
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Bernard Soulier syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.