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NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) AND Bernard Soulier syndrome

Germline classification:
Uncertain significance (2 submissions)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002227301.5

Allele description [Variation Report for NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)]

NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)

Genes:
SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)
HGVS:
  • NC_000022.11:g.19724243G>A
  • NG_007974.1:g.5701G>A
  • NM_000407.5:c.400G>AMANE SELECT
  • NP_000398.1:p.Glu134Lys
  • LRG_478:g.5701G>A
  • NC_000022.10:g.19711766G>A
  • NM_000407.4:c.400G>A
  • NR_037611.1:n.4140G>A
  • NR_037612.1:n.2644G>A
Protein change:
E134K
Links:
dbSNP: rs2145796377
NCBI 1000 Genomes Browser:
rs2145796377
Molecular consequence:
  • NM_000407.5:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037611.1:n.4140G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037612.1:n.2644G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bernard Soulier syndrome (BSS)
Synonyms:
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF; PLATELET GLYCOPROTEIN Ib DEFICIENCY; Giant platelet syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009276; MeSH: D001606; MedGen: C0005129; Orphanet: 274; OMIM: 231200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505679Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
no assertion criteria provided
Likely pathogenic
(May 2, 2022) 		unknownresearch

SCV004013119ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto, SCV002505679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV004013119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024