NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) AND Platelet-type bleeding disorder 10

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Mar 26, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000779539.10

Allele description [Variation Report for NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)]

NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.11

Genomic location:

Preferred name:

NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)

HGVS:

NC_000007.14:g.80671994T>G
NG_008192.1:g.74807T>G
NM_000072.3:c.1079T>G
NM_001001547.3:c.1079T>G
NM_001001548.3:c.1079T>GMANE SELECT
NM_001127443.2:c.1079T>G
NM_001127444.2:c.1079T>G
NM_001289908.1:c.962T>G
NM_001289909.1:c.899T>G
NM_001289911.2:c.851T>G
NM_001371074.1:c.1079T>G
NM_001371075.1:c.1079T>G
NM_001371077.1:c.1079T>G
NM_001371078.1:c.1079T>G
NM_001371079.1:c.977T>G
NM_001371080.1:c.614T>G
NM_001371081.1:c.614T>G
NP_000063.2:p.Leu360Ter
NP_001001547.1:p.Leu360Ter
NP_001001548.1:p.Leu360Ter
NP_001120915.1:p.Leu360Ter
NP_001120916.1:p.Leu360Ter
NP_001276837.1:p.Leu321Ter
NP_001276838.1:p.Leu300Ter
NP_001276840.1:p.Leu284Ter
NP_001358003.1:p.Leu360Ter
NP_001358004.1:p.Leu360Ter
NP_001358006.1:p.Leu360Ter
NP_001358007.1:p.Leu360Ter
NP_001358008.1:p.Leu326Ter
NP_001358009.1:p.Leu205Ter
NP_001358010.1:p.Leu205Ter
NC_000007.13:g.80301310T>G
NM_001001547.2:c.1079T>G
NM_001001548.3:c.1079T>G
NM_001127443.1:c.1079T>G
NR_110501.1:n.1070T>G

Protein change:

L205*

Links:

dbSNP: rs56381858

NCBI 1000 Genomes Browser:

rs56381858

Molecular consequence:

NR_110501.1:n.1070T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000072.3:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001001547.3:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001001548.3:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001127443.2:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001127444.2:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001289908.1:c.962T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001289909.1:c.899T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001289911.2:c.851T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371074.1:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371075.1:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371077.1:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371078.1:c.1079T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371079.1:c.977T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371080.1:c.614T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001371081.1:c.614T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000916207	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Uncertain significance (Dec 3, 2018)	germline	clinical testing	Citation Link,
SCV003834966	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 19, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004027742	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 4, 2023)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004099449	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Pathogenic (Oct 30, 2023)	germline	clinical testing
SCV004807219	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 26, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	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 Illumina Laboratory Services, Illumina, SCV000916207.1

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

Description

The CD36 c.1079T>G (p.Leu360Ter) stop gained variant causes a premature truncation of the protein product. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found with individuals with platelet glycoprotein IV deficiency. This variant is reported at a frequency of 0.001396 in the Other population of the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of unknown significance but suspicious for pathogenicity for platelet glycoprotein IV deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#	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

From Baylor Genetics, SCV003834966.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004027742.1

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

Description

Criteria applied: PVS1,PM2_SUP,PM3_SUP

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

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099449.1

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

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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807219.1

#	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: Jun 17, 2024

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