NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2021
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:: RCV002372288.2

Allele description [Variation Report for NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)]

NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)

Gene:

FKRP:fukutin related protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)

HGVS:

NC_000019.10:g.46756383G>C
NG_008898.2:g.15338G>C
NM_001039885.3:c.933G>C
NM_024301.5:c.933G>CMANE SELECT
NP_001034974.1:p.Glu311Asp
NP_077277.1:p.Glu311Asp
LRG_761t1:c.933G>C
LRG_761:g.15338G>C
LRG_761p1:p.Glu311Asp
NC_000019.9:g.47259640G>C
NM_024301.4:c.933G>C

Protein change:

E311D

Links:

dbSNP: rs911700598

NCBI 1000 Genomes Browser:

rs911700598

Molecular consequence:

NM_001039885.3:c.933G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.933G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002687399	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002687399

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 2021)

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, SCV002687399.2

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

Description

The p.E311D variant (also known as c.933G>C), located in coding exon 1 of the FKRP gene, results from a G to C substitution at nucleotide position 933. The glutamic acid at codon 311 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and aspartic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Sep 29, 2024

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