NM_024301.5(FKRP):c.898G>A (p.Val300Met) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Feb 28, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000672226.6

Allele description [Variation Report for NM_024301.5(FKRP):c.898G>A (p.Val300Met)]

NM_024301.5(FKRP):c.898G>A (p.Val300Met)

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.898G>A (p.Val300Met)

HGVS:

NC_000019.10:g.46756348G>A
NG_008898.2:g.15303G>A
NM_001039885.3:c.898G>A
NM_024301.5:c.898G>AMANE SELECT
NP_001034974.1:p.Val300Met
NP_077277.1:p.Val300Met
LRG_761t1:c.898G>A
LRG_761:g.15303G>A
LRG_761p1:p.Val300Met
NC_000019.9:g.47259605G>A
NM_024301.4:c.898G>A
Q9H9S5:p.Val300Met

Protein change:

V300M

Links:

UniProtKB: Q9H9S5#VAR_065061; dbSNP: rs563033008

NCBI 1000 Genomes Browser:

rs563033008

Molecular consequence:

NM_001039885.3:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000797313	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 22, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 14647208, 27848944 Citation Link,
SCV002581281	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 28, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797313

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jan 22, 2018)

unknown

clinical testing

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

Citation Link,

SCV002581281

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 28, 2022)

germline

clinical testing

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

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
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cássia Pavanello R, Vainzof M, Nigro V, Zatz M.

Eur J Hum Genet. 2003 Dec;11(12):923-30.

PubMed [citation]

PMID:: 14647208

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, et al.

Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16.

PubMed [citation]

PMID:: 27848944
PMCID:: PMC5255946

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000797313.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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 MGZ Medical Genetics Center, SCV002581281.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 12, 2024

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