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NM_001079802.2(FKTN):c.-181+1G>T AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 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:
RCV002502399.1

Allele description [Variation Report for NM_001079802.2(FKTN):c.-181+1G>T]

NM_001079802.2(FKTN):c.-181+1G>T

Genes:
FKTN-AS1:FKTN antisense RNA 1 [Gene - HGNC]
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.-181+1G>T
HGVS:
  • NC_000009.12:g.105558166G>T
  • NG_008754.1:g.5037G>T
  • NG_181733.1:g.65G>T
  • NM_001079802.2:c.-181+1G>TMANE SELECT
  • NM_001198963.2:c.-181+1G>T
  • NM_001351496.2:c.-316+1G>T
  • NM_001351497.2:c.-483+1G>T
  • NM_001351498.2:c.-89+1G>T
  • NM_001351499.2:c.-830+1G>T
  • NM_001351500.2:c.-695+1G>T
  • NM_001351501.2:c.-603+1G>T
  • NM_001351502.2:c.-923+1G>T
  • NM_006731.2:c.-89+1G>T
  • LRG_434t1:c.-181+1G>T
  • LRG_434t2:c.-89+1G>T
  • LRG_434:g.5037G>T
  • NC_000009.11:g.108320447G>T
  • NM_001079802.1:c.-181+1G>T
  • NR_184141.1:n.141C>A
Links:
dbSNP: rs574535599
NCBI 1000 Genomes Browser:
rs574535599
Molecular consequence:
  • NR_184141.1:n.141C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079802.2:c.-181+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001198963.2:c.-181+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351496.2:c.-316+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351497.2:c.-483+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351498.2:c.-89+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351499.2:c.-830+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351500.2:c.-695+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351501.2:c.-603+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351502.2:c.-923+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006731.2:c.-89+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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 (MDDGA4)
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 with brain and eye anomalies), type A1 (MDDGA1)
Synonyms:
Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
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
SCV002779158Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 22, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002779158.1

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

Last Updated: Oct 8, 2024