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NM_024301.5(FKRP):c.708G>A (p.Leu236=) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 25, 2017
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:
RCV000668416.1

Allele description [Variation Report for NM_024301.5(FKRP):c.708G>A (p.Leu236=)]

NM_024301.5(FKRP):c.708G>A (p.Leu236=)

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.708G>A (p.Leu236=)
HGVS:
  • NC_000019.10:g.46756158G>A
  • NG_008898.2:g.15113G>A
  • NM_001039885.3:c.708G>A
  • NM_024301.5:c.708G>AMANE SELECT
  • NP_001034974.1:p.Leu236=
  • NP_077277.1:p.Leu236=
  • LRG_761t1:c.708G>A
  • LRG_761:g.15113G>A
  • LRG_761p1:p.Leu236=
  • NC_000019.9:g.47259415G>A
  • NM_024301.4:c.708G>A
Links:
dbSNP: rs886038683
NCBI 1000 Genomes Browser:
rs886038683
Molecular consequence:
  • NM_001039885.3:c.708G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024301.5:c.708G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000793012Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Jul 25, 2017) 		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, SCV000793012.1

#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: Sep 29, 2024