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NM_001079802.2(FKTN):c.506A>G (p.His169Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2021
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:
RCV003224628.1

Allele description [Variation Report for NM_001079802.2(FKTN):c.506A>G (p.His169Arg)]

NM_001079802.2(FKTN):c.506A>G (p.His169Arg)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
HGVS:
  • NC_000009.12:g.105604351A>G
  • NG_008754.1:g.51222A>G
  • NM_001079802.2:c.506A>GMANE SELECT
  • NM_001198963.2:c.506A>G
  • NM_001351496.2:c.506A>G
  • NM_001351497.2:c.437A>G
  • NM_001351498.2:c.506A>G
  • NM_001351499.2:c.110A>G
  • NM_001351500.2:c.110A>G
  • NM_001351501.2:c.110A>G
  • NM_001351502.2:c.110A>G
  • NM_006731.2:c.506A>G
  • NP_001073270.1:p.His169Arg
  • NP_001073270.1:p.His169Arg
  • NP_001185892.1:p.His169Arg
  • NP_001338425.1:p.His169Arg
  • NP_001338426.1:p.His146Arg
  • NP_001338427.1:p.His169Arg
  • NP_001338428.1:p.His37Arg
  • NP_001338429.1:p.His37Arg
  • NP_001338430.1:p.His37Arg
  • NP_001338431.1:p.His37Arg
  • NP_006722.2:p.His169Arg
  • LRG_434t1:c.506A>G
  • LRG_434t2:c.506A>G
  • LRG_434:g.51222A>G
  • LRG_434p1:p.His169Arg
  • LRG_434p2:p.His169Arg
  • NC_000009.11:g.108366632A>G
  • NM_001079802.1:c.506A>G
  • NR_147213.2:n.721A>G
  • NR_147214.2:n.629A>G
Protein change:
H146R
Molecular consequence:
  • NM_001079802.2:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351497.2:c.437A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351499.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351500.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351501.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351502.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.721A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.629A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dilated cardiomyopathy 1X (CMD1X)
Synonyms:
CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; FKTN-Related Dilated Cardiomyopathy
Identifiers:
MONDO: MONDO:0012704; MedGen: C1969024; Orphanet: 154; OMIM: 611615
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Synonyms:
Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800
Name:
Autosomal recessive limb-girdle muscular dystrophy type 2M
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Identifiers:
MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588
Name:
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 (MDDGB4)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
Identifiers:
MONDO: MONDO:0013156; MedGen: C2751052; OMIM: 613152

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919967Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 30, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003919967.1

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

Description

FKTN NM_001079802.1 exon 6 p.His169Arg (c.506A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: May 1, 2024