NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001175208.3

Allele description [Variation Report for NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)]

NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)

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.883C>G (p.Arg295Gly)

HGVS:

NC_000019.10:g.46756333C>G
NG_008898.2:g.15288C>G
NM_001039885.3:c.883C>G
NM_024301.5:c.883C>GMANE SELECT
NP_001034974.1:p.Arg295Gly
NP_077277.1:p.Arg295Gly
LRG_761t1:c.883C>G
LRG_761:g.15288C>G
LRG_761p1:p.Arg295Gly
NC_000019.9:g.47259590C>G
NM_001039885.2:c.883C>G

Protein change:

R295G

Links:

dbSNP: rs2054921636

NCBI 1000 Genomes Browser:

rs2054921636

Molecular consequence:

NM_001039885.3:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Identifiers:: MONDO: MONDO:0013157; MedGen: C3150413; Orphanet: 588; Orphanet: 899; OMIM: 613153

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338732	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	no assertion criteria provided	Likely pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338732

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

no assertion criteria provided

Likely pathogenic

germline

research

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	research

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001338732.1

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

Last Updated: Aug 4, 2024

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