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NM_016363.5(GP6):c.708_711del (p.Asn236fs) AND Platelet-type bleeding disorder 11

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:
RCV002254221.2

Allele description [Variation Report for NM_016363.5(GP6):c.708_711del (p.Asn236fs)]

NM_016363.5(GP6):c.708_711del (p.Asn236fs)

Gene:
GP6:glycoprotein VI platelet [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_016363.5(GP6):c.708_711del (p.Asn236fs)
HGVS:
  • NC_000019.10:g.55018667_55018670del
  • NG_031963.2:g.24597_24600del
  • NM_001083899.2:c.708_711del
  • NM_001256017.2:c.654_657del
  • NM_016363.5:c.708_711delMANE SELECT
  • NP_001077368.2:p.Asn236fs
  • NP_001242946.2:p.Asn218fs
  • NP_057447.5:p.Asn236fs
  • LRG_560t1:c.708_711del
  • LRG_560t2:c.654_657del
  • LRG_560t3:c.708_711del
  • LRG_560:g.24597_24600del
  • LRG_560p1:p.Asn236fs
  • LRG_560p2:p.Asn218fs
  • LRG_560p3:p.Asn236fs
  • NC_000019.9:g.55530035_55530038del
  • NM_001083899.2:c.708_711delCGAA
Protein change:
N218fs
Links:
dbSNP: rs754929349
NCBI 1000 Genomes Browser:
rs754929349
Molecular consequence:
  • NM_001083899.2:c.708_711del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256017.2:c.654_657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016363.5:c.708_711del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Platelet-type bleeding disorder 11 (BDPLT11)
Synonyms:
GLYCOPROTEIN VI DEFICIENCY; GP VI DEFICIENCY
Identifiers:
MONDO: MONDO:0013623; MedGen: C3280120; Orphanet: 73271; OMIM: 614201

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525457ISTH-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 providedgermlineyes1not providednot providednot providedyesclinical 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, SCV002525457.2

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

Last Updated: Dec 24, 2023