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NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) AND Bernard Soulier syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV002243432.3

Allele description [Variation Report for NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)]

NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)

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.206C>T (p.Pro69Leu)
HGVS:
  • NC_000017.11:g.4932810C>T
  • NG_008767.2:g.5516C>T
  • NM_000173.7:c.206C>TMANE SELECT
  • NP_000164.5:p.Pro69Leu
  • LRG_480t1:c.206C>T
  • LRG_480:g.5516C>T
  • LRG_480p1:p.Pro69Leu
  • NC_000017.10:g.4836105C>T
  • NM_000173.6:c.206C>T
Protein change:
P69L
Links:
dbSNP: rs138825640
NCBI 1000 Genomes Browser:
rs138825640
Molecular consequence:
  • NM_000173.7:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002515575ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515575.1

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

Last Updated: Sep 29, 2024