NM_001001548.3(CD36):c.107del (p.Lys36fs) AND Platelet-type bleeding disorder 10

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 4, 2024
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:: RCV003991807.2

Allele description [Variation Report for NM_001001548.3(CD36):c.107del (p.Lys36fs)]

NM_001001548.3(CD36):c.107del (p.Lys36fs)

Gene:

CD36:CD36 molecule (CD36 blood group) [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.11

Genomic location:

Preferred name:

NM_001001548.3(CD36):c.107del (p.Lys36fs)

HGVS:

NC_000007.14:g.80646847del
NG_008192.1:g.49660del
NM_000072.3:c.107del
NM_001001547.3:c.107del
NM_001001548.3:c.107delMANE SELECT
NM_001127443.1:c.107del
NM_001127443.2:c.107del
NM_001127444.2:c.107del
NM_001289908.1:c.107del
NM_001289909.1:c.107del
NM_001289911.2:c.-108-9693del
NM_001371074.1:c.107del
NM_001371075.1:c.107del
NM_001371077.1:c.107del
NM_001371078.1:c.107del
NM_001371079.1:c.107del
NM_001371080.1:c.-184-14216del
NM_001371081.1:c.-376del
NP_000063.2:p.Lys36fs
NP_001001547.1:p.Lys36fs
NP_001001548.1:p.Lys36fs
NP_001120915.1:p.Lys36fs
NP_001120916.1:p.Lys36fs
NP_001276837.1:p.Lys36fs
NP_001276838.1:p.Lys36fs
NP_001358003.1:p.Lys36fs
NP_001358004.1:p.Lys36fs
NP_001358006.1:p.Lys36fs
NP_001358007.1:p.Lys36fs
NP_001358008.1:p.Lys36fs
NC_000007.13:g.80276163del
NR_110501.1:n.286del

Protein change:

K36fs

Links:

dbSNP: rs754478799

NCBI 1000 Genomes Browser:

rs754478799

Molecular consequence:

NM_001371081.1:c.-376del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000072.3:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001001547.3:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001001548.3:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127443.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127444.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289908.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289909.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371074.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371075.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371077.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371078.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371079.1:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289911.2:c.-108-9693del - intron variant - [Sequence Ontology: SO:0001627]
NM_001371080.1:c.-184-14216del - intron variant - [Sequence Ontology: SO:0001627]
NR_110501.1:n.286del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Platelet-type bleeding disorder 10
Synonyms:: CD36 DEFICIENCY; Platelet glycoprotein IV deficiency
Identifiers:: MONDO: MONDO:0012031; MedGen: C1842090; OMIM: 608404

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004810079	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 4, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004810079

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 4, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004810079.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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