NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 21, 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:: RCV000670956.1

Allele description [Variation Report for NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)]

NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)

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>T (p.Pro316Ser)

HGVS:

NC_000019.10:g.46756396C>T
NG_008898.2:g.15351C>T
NM_001039885.3:c.946C>T
NM_024301.5:c.946C>TMANE SELECT
NP_001034974.1:p.Pro316Ser
NP_077277.1:p.Pro316Ser
LRG_761t1:c.946C>T
LRG_761:g.15351C>T
LRG_761p1:p.Pro316Ser
NC_000019.9:g.47259653C>T
NM_024301.4:c.946C>T
Q9H9S5:p.Pro316Ser

Protein change:

P316S

Links:

UniProtKB: Q9H9S5#VAR_022851; dbSNP: rs28937901

NCBI 1000 Genomes Browser:

rs28937901

Molecular consequence:

NM_001039885.3:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.946C>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
SCV000795883	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 21, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795883

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Nov 21, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F.

Ann Neurol. 2003 Apr;53(4):537-42.

PubMed [citation]

PMID:: 12666124

Details of each submission

From Counsyl, SCV000795883.1

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

#	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

Last Updated: Sep 29, 2024

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