NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp) AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 30, 2016
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:: RCV000178348.2

Allele description

NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp)

HGVS:

NC_000019.10:g.46756837A>G
NG_008898.2:g.15792A>G
NM_024301.4:c.1387A>G
NP_077277.1:p.Asn463Asp
NC_000019.9:g.47260094A>G
NG_008898.1:g.15792A>G
Q9H9S5:p.Asn463Asp

Protein change:

N463D; ASN463ASP

Links:

UniProtKB: Q9H9S5#VAR_065063; OMIM: 606596.0018; dbSNP: rs121908110

NCBI 1000 Genomes Browser:

rs121908110

Molecular consequence:

NM_024301.4:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 (MDDGA5)
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
Identifiers:: 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
SCV000230413	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Jun 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000230413

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Jun 30, 2016)

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	7	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000230413.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	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	unknown	not provided	not provided	not provided		7	not provided	not provided	not provided

Last Updated: Aug 4, 2019

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