NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 7, 2017
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:: RCV000665956.2

Allele description [Variation Report for NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)]

NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)

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.266C>T (p.Pro89Leu)

HGVS:

NC_000019.10:g.46755716C>T
NG_008898.2:g.14671C>T
NM_001039885.3:c.266C>T
NM_024301.5:c.266C>TMANE SELECT
NP_001034974.1:p.Pro89Leu
NP_077277.1:p.Pro89Leu
LRG_761t1:c.266C>T
LRG_761:g.14671C>T
LRG_761p1:p.Pro89Leu
NC_000019.9:g.47258973C>T
NM_024301.4:c.266C>T

Protein change:

P89L

Links:

dbSNP: rs770711331

NCBI 1000 Genomes Browser:

rs770711331

Molecular consequence:

NM_001039885.3:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.266C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790174	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 7, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17446099, 18639457, 16368217, 18691338 Citation Link,
SCV001454628	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790174

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Mar 7, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001454628

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

Darin N, Kroksmark AK, Ahlander AC, Moslemi AR, Oldfors A, Tulinius M.

Eur J Paediatr Neurol. 2007 Nov;11(6):353-7. Epub 2007 Apr 18.

PubMed [citation]

PMID:: 17446099

Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.

Wahbi K, Meune C, Hamouda el H, Stojkovic T, Laforêt P, Bécane HM, Eymard B, Duboc D.

Neuromuscul Disord. 2008 Aug;18(8):650-5. doi: 10.1016/j.nmd.2008.06.365. Epub 2008 Jul 17.

PubMed [citation]

PMID:: 18639457

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000790174.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001454628.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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