Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000173.7(GP1BA):c.1311A>G (p.Pro437=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8314972

255467 (ClinVar)

Gene: GP1BA

Condition: Bernard-Soulier syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6f651589-971a-4fa5-b0b8-d7ae2793c448

Approved on: 2025-02-11

Published on: 2025-02-12

HGVS expressions

NM_000173.7:c.1311A>G

NM_000173.7(GP1BA):c.1311A>G (p.Pro437=)

NC_000017.11:g.4933915A>G

CM000679.2:g.4933915A>G

NC_000017.10:g.4837210A>G

CM000679.1:g.4837210A>G

NG_008767.2:g.6621A>G

ENST00000329125.6:c.1311A>G

ENST00000649830.1:c.-888+427T>C

ENST00000329125.5:c.1311A>G

ENST00000611961.1:c.1273-40A>G

NM_000173.6:c.1311A>G

Benign

BP7 BP4 BA1

Evidence Links 0

Expert Panel

Platelet Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BA Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Platelet Disorders VCEP

The NM_000173.7(GP1BA):c.1311A>G (p.Pro437=) synonymous variant occurs at a Grpmax filtering allele frequency of 0.8560 (based 186885/217504 alleles in the European non-Finnish population) in gnomADv4.1, which is higher than the ClinGen PD VCEP threshold (>0.001) for BA1. In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing (delta score 0.00) and a PhyloP score of 0.011 shows that the nucleotide position is not highly conserved (BP4, BP7). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive Bernard-Soulier syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1, BP4, BP7.

BP7

The c.1311A>G (p.Pro437=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not highly conserved as shown by phyloP score of .011 (BP7).

BP4

The computational splicing predictor SpliceAI indicated that the variant has no impact on splicing (delta scores 0.00).

BA1

The gnomADv4.1 Grpmax filtering allele frequency is 0.8560 (based 186885/217504 alleles in the European non-Finnish population) which is higher than the ClinGen PD VCEP threshold (>0.001), and therefore meets this criterion (BA1).

Curation History

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