NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Germline classification:: 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:: RCV000495943.1

Allele description [Variation Report for NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)]

NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)

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.679G>C (p.Ala227Pro)

HGVS:

NC_000019.10:g.46756129G>C
NG_008898.2:g.15084G>C
NM_001039885.3:c.679G>C
NM_024301.5:c.679G>CMANE SELECT
NP_001034974.1:p.Ala227Pro
NP_077277.1:p.Ala227Pro
LRG_761t1:c.679G>C
LRG_761:g.15084G>C
LRG_761p1:p.Ala227Pro
NC_000019.9:g.47259386G>C
NM_001039885.2:c.679G>C
p.A227P

Protein change:

A227P

Links:

dbSNP: rs775681117

NCBI 1000 Genomes Browser:

rs775681117

Molecular consequence:

NM_001039885.3:c.679G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.679G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
Synonyms:: Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800

Recent activity

Clear Turn Off Turn On

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
SCV000579474	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579474

Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hindu/Gujarati	germline	no	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000579474.1

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

Description

The observed variant is not reported in 1000 genomes and is likely to be pathogenic by SIFT and FATHMM. The individual's first child expired at 5 years of age and manifested motor and cognitive delay, development of joint contractures and mild sensorineural hearing loss, suggestive of congenital myopathy.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine