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NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) AND not provided

Germline classification:
Uncertain significance (4 submissions)
Last evaluated:
Oct 20, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001093246.36

Allele description [Variation Report for NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)]

NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)

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.1177G>A (p.Val393Ile)
Other names:
p.V393I:GTA>ATA
HGVS:
  • NC_000019.10:g.46756627G>A
  • NG_008898.2:g.15582G>A
  • NM_001039885.3:c.1177G>A
  • NM_024301.5:c.1177G>AMANE SELECT
  • NP_001034974.1:p.Val393Ile
  • NP_077277.1:p.Val393Ile
  • LRG_761t1:c.1177G>A
  • LRG_761:g.15582G>A
  • LRG_761p1:p.Val393Ile
  • NC_000019.9:g.47259884G>A
  • NM_024301.4:c.1177G>A
Protein change:
V393I
Links:
dbSNP: rs140679502
NCBI 1000 Genomes Browser:
rs140679502
Molecular consequence:
  • NM_001039885.3:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613306Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Uncertain significance
(Feb 17, 2020)
unknownclinical testing

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

SCV001250137CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Dec 1, 2019)
germlineclinical testing

Citation Link,

SCV002048979ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Uncertain significance
(Oct 20, 2023)
germlineclinical testing

Citation Link,

SCV004225417Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 18, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Athena Diagnostics, SCV000613306.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001250137.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048979.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FKRP c.1177G>A; p.Val393Ile variant (rs140679502), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 137380). This variant is found in the African population with an allele frequency of 0.7% (162/24462 alleles, including 1 homozygote) in the Genome Aggregation Database. The valine at codon 393 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.66). Due to limited information, the clinical significance of the p.Val393Ile variant is uncertain at this time. Gene specific statement: Pathogenic variants in FKRP are inherited in an autosomal recessive manner and are associated with muscular dystrophy-dystroglycanopathy types A5, B5 and C5 (MIM: 613153, 606612, and 607155). Symptomatic heterozygous carriers have also been reported at least once in the literature and present with a milder phenotype (Schottlaender et al. 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004225417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

BS1

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

Last Updated: Oct 26, 2024