NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 20, 2023
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:
RCV001275320.10

Allele description [Variation Report for NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)]

NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)

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.1177G>A (p.Val393Ile)
Other names:
p.V393I:GTA>ATA
HGVS:
  • NC_000019.10:g.46756627G>A
  • NG_008898.2:g.15582G>A
  • NM_001039885.3:c.1177G>A
  • NM_024301.5:c.1177G>AMANE SELECT
  • NP_001034974.1:p.Val393Ile
  • NP_077277.1:p.Val393Ile
  • LRG_761t1:c.1177G>A
  • LRG_761:g.15582G>A
  • LRG_761p1:p.Val393Ile
  • NC_000019.9:g.47259884G>A
  • NM_024301.4:c.1177G>A
Protein change:
V393I
Links:
dbSNP: rs140679502
NCBI 1000 Genomes Browser:
rs140679502
Molecular consequence:
  • NM_001039885.3:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001460345Natera, Inc.
no assertion criteria provided
Benign
(Jan 10, 2020) 		germlineclinical testing

SCV003919050Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Apr 20, 2023) 		maternalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV001460345.1

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

From Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024