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NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003483731.1

Allele description [Variation Report for NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)]

NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)

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.976G>A (p.Ala326Thr)
HGVS:
  • NC_000019.10:g.46756426G>A
  • NG_008898.2:g.15381G>A
  • NM_001039885.3:c.976G>A
  • NM_024301.5:c.976G>AMANE SELECT
  • NP_001034974.1:p.Ala326Thr
  • NP_077277.1:p.Ala326Thr
  • LRG_761t1:c.976G>A
  • LRG_761:g.15381G>A
  • LRG_761p1:p.Ala326Thr
  • NC_000019.9:g.47259683G>A
  • NM_024301.4:c.976G>A
Protein change:
A326T
Links:
dbSNP: rs1201873802
NCBI 1000 Genomes Browser:
rs1201873802
Molecular consequence:
  • NM_001039885.3:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy type B5 (MDDGB5)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
Identifiers:
MONDO: MONDO:0011688; MedGen: C1847759; OMIM: 606612
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
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Identifiers:
MONDO: MONDO:0013157; MedGen: C3150413; Orphanet: 588; Orphanet: 899; OMIM: 613153

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228717GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-04-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: May 1, 2024