U.S. flag

An official website of the United States government

NM_024301.5(FKRP):c.1415del (p.Lys472fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
May 31, 2024
Review status:
no classifications from unflagged records
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:
RCV000671966.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1415del (p.Lys472fs)]

NM_024301.5(FKRP):c.1415del (p.Lys472fs)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
HGVS:
  • NC_000019.10:g.46756865del
  • NG_008898.2:g.15820del
  • NM_001039885.3:c.1415del
  • NM_024301.5:c.1415delMANE SELECT
  • NP_001034974.1:p.Lys472fs
  • NP_077277.1:p.Lys472fs
  • LRG_761t1:c.1415del
  • LRG_761:g.15820del
  • LRG_761p1:p.Lys472fs
  • NC_000019.9:g.47260122del
  • NM_024301.4:c.1415delA
Protein change:
K472fs
Links:
dbSNP: rs1555739280
NCBI 1000 Genomes Browser:
rs1555739280
Molecular consequence:
  • NM_001039885.3:c.1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024301.5:c.1415del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797013.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000797013Counsyl
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 9, 2018) 		unknownclinical testing

Citation Link

Last Updated: Oct 8, 2024