U.S. flag

An official website of the United States government

NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) 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:
RCV000675047.2

Allele description [Variation Report for NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)]

NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)

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.946C>A (p.Pro316Thr)
HGVS:
  • NC_000019.10:g.46756396C>A
  • NG_008898.2:g.15351C>A
  • NM_001039885.3:c.946C>A
  • NM_024301.5:c.946C>AMANE SELECT
  • NP_001034974.1:p.Pro316Thr
  • NP_077277.1:p.Pro316Thr
  • LRG_761t1:c.946C>A
  • LRG_761:g.15351C>A
  • LRG_761p1:p.Pro316Thr
  • NC_000019.9:g.47259653C>A
  • NM_024301.4:c.946C>A
Protein change:
P316T; PRO316THR
Links:
OMIM: 606596.0007; dbSNP: rs28937901
NCBI 1000 Genomes Browser:
rs28937901
Molecular consequence:
  • NM_001039885.3:c.946C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.946C>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

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

Citations

PubMed

Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human.

Kuchta K, Knizewski L, Wyrwicz LS, Rychlewski L, Ginalski K.

Nucleic Acids Res. 2009 Dec;37(22):7701-14. doi: 10.1093/nar/gkp854.

PubMed [citation]
PMID:
19833706
PMCID:
PMC2794190

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.

Neurology. 2003 Mar 25;60(6):988-92.

PubMed [citation]
PMID:
12654965

Details of each submission

From Counsyl, SCV000800483.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#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
SCV000800483Counsyl
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Dec 29, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Oct 8, 2024