NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 22, 2018
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:: RCV000282481.2

Allele description [Variation Report for NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)]

NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

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.970G>T (p.Glu324Ter)

HGVS:

NC_000019.10:g.46756420G>T
NG_008898.2:g.15375G>T
NM_001039885.3:c.970G>T
NM_024301.5:c.970G>TMANE SELECT
NP_001034974.1:p.Glu324Ter
NP_077277.1:p.Glu324Ter
LRG_761t1:c.970G>T
LRG_761:g.15375G>T
LRG_761p1:p.Glu324Ter
NC_000019.9:g.47259677G>T
NM_024301.4:c.970G>T

Protein change:

E324*

Links:

dbSNP: rs886044183

NCBI 1000 Genomes Browser:

rs886044183

Molecular consequence:

NM_001039885.3:c.970G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024301.5:c.970G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2I
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800100	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 22, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800100

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(May 22, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000800100.1

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

Last Updated: Sep 29, 2024

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