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NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 2022
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:
RCV002464501.3

Allele description [Variation Report for NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)]

NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)

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.646C>T (p.Arg216Trp)
HGVS:
  • NC_000019.10:g.46756096C>T
  • NG_008898.2:g.15051C>T
  • NM_001039885.3:c.646C>T
  • NM_024301.5:c.646C>TMANE SELECT
  • NP_001034974.1:p.Arg216Trp
  • NP_077277.1:p.Arg216Trp
  • LRG_761t1:c.646C>T
  • LRG_761:g.15051C>T
  • LRG_761p1:p.Arg216Trp
  • NC_000019.9:g.47259353C>T
  • NM_001039885.3:c.646C>T
  • NM_024301.4:c.646C>T
Protein change:
R216W
Links:
dbSNP: rs2054912295
NCBI 1000 Genomes Browser:
rs2054912295
Molecular consequence:
  • NM_001039885.3:c.646C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.646C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002759407Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 5, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not 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 Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV002759407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.646C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not previously reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies. This individual harbours another heterozygous variant c.587G>A in the FKRP gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024