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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800421Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jun 5, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000800421.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023