NM_001001548.3(CD36):c.202T>G (p.Phe68Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 2023
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:: RCV004355282.1

Allele description [Variation Report for NM_001001548.3(CD36):c.202T>G (p.Phe68Val)]

NM_001001548.3(CD36):c.202T>G (p.Phe68Val)

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.202T>G (p.Phe68Val)

HGVS:

NC_000007.14:g.80656621T>G
NG_008192.1:g.59434T>G
NM_000072.3:c.202T>G
NM_001001547.3:c.202T>G
NM_001001548.3:c.202T>GMANE SELECT
NM_001127443.2:c.202T>G
NM_001127444.2:c.202T>G
NM_001289908.1:c.202T>G
NM_001289909.1:c.202T>G
NM_001289911.2:c.-27T>G
NM_001371074.1:c.202T>G
NM_001371075.1:c.202T>G
NM_001371077.1:c.202T>G
NM_001371078.1:c.202T>G
NM_001371079.1:c.121-21T>G
NM_001371080.1:c.-184-4442T>G
NM_001371081.1:c.-281T>G
NP_000063.2:p.Phe68Val
NP_001001547.1:p.Phe68Val
NP_001001548.1:p.Phe68Val
NP_001120915.1:p.Phe68Val
NP_001120916.1:p.Phe68Val
NP_001276837.1:p.Phe68Val
NP_001276838.1:p.Phe68Val
NP_001358003.1:p.Phe68Val
NP_001358004.1:p.Phe68Val
NP_001358006.1:p.Phe68Val
NP_001358007.1:p.Phe68Val
NC_000007.13:g.80285937T>G
NM_001001547.2:c.202T>G
NR_110501.1:n.381T>G

Protein change:

F68V

Molecular consequence:

NM_001289911.2:c.-27T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371081.1:c.-281T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371079.1:c.121-21T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001371080.1:c.-184-4442T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000072.3:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001001547.3:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001001548.3:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127443.2:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127444.2:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289908.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289909.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371074.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371075.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371077.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371078.1:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110501.1:n.381T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

heterogeneous nuclear ribonucleoprotein H3 isoform X3 [Ovis aries]
heterogeneous nuclear ribonucleoprotein H3 isoform X3 [Ovis aries]
gi|2062863441|ref|XP_042096713.1|

Protein
Bos taurus
Bos taurus
Bos taurus Raw sequence reads

BioProject
Methanosarcina sp. MTP4
Methanosarcina sp. MTP4
Methanogenic archaea and the global carbon cycle

BioProject

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004073944	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004073944

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 29, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004073944.2

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

Description

The c.202T>G (p.F68V) alteration is located in exon 4 (coding exon 2) of the CD36 gene. This alteration results from a T to G substitution at nucleotide position 202, causing the phenylalanine (F) at amino acid position 68 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine