NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001275309.1

Allele description [Variation Report for NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)]

NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)

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.323T>C (p.Leu108Pro)

HGVS:

NC_000019.10:g.46755773T>C
NG_008898.2:g.14728T>C
NM_001039885.3:c.323T>C
NM_024301.5:c.323T>CMANE SELECT
NP_001034974.1:p.Leu108Pro
NP_077277.1:p.Leu108Pro
LRG_761t1:c.323T>C
LRG_761:g.14728T>C
LRG_761p1:p.Leu108Pro
NC_000019.9:g.47259030T>C
NC_000019.9:g.47259030T>C
NM_024301.4:c.323T>C

Protein change:

L108P

Links:

dbSNP: rs936866997

NCBI 1000 Genomes Browser:

rs936866997

Molecular consequence:

NM_001039885.3:c.323T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.323T>C - 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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001460332	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001460332

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 24, 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

Details of each submission

From Natera, Inc., SCV001460332.1

#	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: Mar 30, 2024

ClinVar

Relating variation to medicine