NM_024301.5(FKRP):c.688_722del (p.Gly230fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 5, 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:: RCV000674998.1

Allele description [Variation Report for NM_024301.5(FKRP):c.688_722del (p.Gly230fs)]

NM_024301.5(FKRP):c.688_722del (p.Gly230fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_024301.5(FKRP):c.688_722del (p.Gly230fs)

HGVS:

NC_000019.10:g.46756138_46756172del
NG_008898.2:g.15093_15127del
NM_001039885.3:c.688_722del
NM_024301.5:c.688_722delMANE SELECT
NP_001034974.1:p.Gly230fs
NP_077277.1:p.Gly230fs
LRG_761t1:c.688_722del
LRG_761:g.15093_15127del
LRG_761p1:p.Gly230fs
NC_000019.9:g.47259395_47259429del
NM_024301.4:c.688_722del35

Protein change:

G230fs

Links:

dbSNP: rs1555738675

NCBI 1000 Genomes Browser:

rs1555738675

Molecular consequence:

NM_001039885.3:c.688_722del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024301.5:c.688_722del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000800421	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 5, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800421

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 5, 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, SCV000800421.1

#	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: Jul 29, 2023

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