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NM_024301.5(FKRP):c.1270A>C (p.Asn424His) AND Muscular dystrophy-dystroglycanopathy type B5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 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:
RCV001197776.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1270A>C (p.Asn424His)]

NM_024301.5(FKRP):c.1270A>C (p.Asn424His)

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.1270A>C (p.Asn424His)
HGVS:
  • NC_000019.10:g.46756720A>C
  • NG_008898.2:g.15675A>C
  • NM_001039885.3:c.1270A>C
  • NM_024301.5:c.1270A>CMANE SELECT
  • NP_001034974.1:p.Asn424His
  • NP_077277.1:p.Asn424His
  • LRG_761t1:c.1270A>C
  • LRG_761:g.15675A>C
  • LRG_761p1:p.Asn424His
  • NC_000019.9:g.47259977A>C
  • NM_001039885.2:c.1270A>C
  • NM_024301.4:c.1270A>C
Protein change:
N424H
Links:
dbSNP: rs769568971
NCBI 1000 Genomes Browser:
rs769568971
Molecular consequence:
  • NM_001039885.3:c.1270A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1270A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy type B5 (MDDGB5)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
Identifiers:
MONDO: MONDO:0011688; MedGen: C1847759; OMIM: 606612

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001368555Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 24, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001368555.2

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

Description

This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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

Last Updated: Oct 20, 2024