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NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) AND GP1BA-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 5, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003938153.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)]

NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)

Gene:
GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
HGVS:
  • NC_000017.11:g.4932775C>A
  • NG_008767.2:g.5481C>A
  • NM_000173.6:c.171C>A
  • NM_000173.7:c.171C>AMANE SELECT
  • NP_000164.5:p.Asn57Lys
  • LRG_480t1:c.171C>A
  • LRG_480:g.5481C>A
  • LRG_480p1:p.Asn57Lys
  • NC_000017.10:g.4836070C>A
  • NM_000173.5:c.171C>A
Protein change:
N57K
Links:
dbSNP: rs1597638398
NCBI 1000 Genomes Browser:
rs1597638398
Molecular consequence:
  • NM_000173.7:c.171C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GP1BA-related disorder
Synonyms:
GP1BA-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004754530PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jan 5, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004754530.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GP1BA c.171C>A variant is predicted to result in the amino acid substitution p.Asn57Lys. This variant (aka p.Asn41Lys) has been reported in an individual that was part of a study cohort with platelet number abnormalities, primarily macrothrombocytopenia (Downes et al. 2019. PubMed ID: 31064749. Suppl3_SNV+INDEL). Amino acid residue p.Asn57 is highly conserved and resides in the functional luecine-rich repeat domain of the GP1BA protein. A different substitution of the same amino acid residue, defined as p.Asn57His (aka p.Asn41His) has been reported in association with autosomal dominant Bernard-Soulier syndrome (BSS) in several different families (Berndt and Andrews. 2011. PubMed ID: 21357716; Vettore et al. 2008. PubMed ID: 18815197). These data suggest that substitution of amino acid residue p.Asn57 is not tolerated. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. We interpret the p.Asn57Lys substitution found in this patient as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024