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NM_001377304.1(GFI1B):c.724del (p.His242fs) AND Storage pool disease of platelets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 2018
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:
RCV000710041.1

Allele description [Variation Report for NM_001377304.1(GFI1B):c.724del (p.His242fs)]

NM_001377304.1(GFI1B):c.724del (p.His242fs)

Gene:
GFI1B:growth factor independent 1B transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001377304.1(GFI1B):c.724del (p.His242fs)
HGVS:
  • NC_000009.12:g.132989817del
  • NG_034227.1:g.49273del
  • NM_001135031.2:c.586del
  • NM_001371908.1:c.790del
  • NM_001377304.1:c.724delMANE SELECT
  • NM_001377305.1:c.586del
  • NM_004188.8:c.724del
  • NP_001128503.1:p.His196fs
  • NP_001358837.1:p.His264fs
  • NP_001364233.1:p.His242fs
  • NP_001364234.1:p.His196fs
  • NP_004179.3:p.His242fs
  • NP_004179.3:p.His242fs
  • LRG_879:g.49273del
  • NC_000009.11:g.135865204del
  • NM_004188.6:c.724del
  • p.(His242Thrfs*22)
Protein change:
H196fs
Links:
dbSNP: rs1564180346
NCBI 1000 Genomes Browser:
rs1564180346
Molecular consequence:
  • NM_001135031.2:c.586del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371908.1:c.790del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377304.1:c.724del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377305.1:c.586del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004188.8:c.724del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Storage pool disease of platelets
Synonyms:
Platelet storage pool deficiency; Platelet storage pool diseases; Storage pool platelet disease
Identifiers:
MONDO: MONDO:0008495; MedGen: C0032197; OMIM: 185050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840418Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 7, 2018) 		germlineclinical 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

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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000840418.1

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

Last Updated: Apr 23, 2022