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NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) AND Bernard Soulier syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV002254218.4

Allele description [Variation Report for NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter)]

NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter)

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.443G>A (p.Trp148Ter)
HGVS:
  • NC_000022.11:g.19724286G>A
  • NG_007974.1:g.5744G>A
  • NM_000407.5:c.443G>AMANE SELECT
  • NP_000398.1:p.Trp148Ter
  • LRG_478:g.5744G>A
  • NC_000022.10:g.19711809G>A
  • NR_037611.1:n.4183G>A
  • NR_037612.1:n.2687G>A
Protein change:
W148*
Links:
dbSNP: rs1375840544
NCBI 1000 Genomes Browser:
rs1375840544
Molecular consequence:
  • NR_037611.1:n.4183G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037612.1:n.2687G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000407.5:c.443G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

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
SCV002525454ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2not providedclinical testing

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 ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002525454.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 7, 2024