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NM_001079802.2(FKTN):c.-45G>T AND Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 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:
RCV001701495.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.-45G>T]

NM_001079802.2(FKTN):c.-45G>T

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.-45G>T
HGVS:
  • NC_000009.12:g.105574988G>T
  • NG_008754.1:g.21859G>T
  • NM_001079802.2:c.-45G>TMANE SELECT
  • NM_001198963.2:c.-45G>T
  • NM_001351496.2:c.-45G>T
  • NM_001351497.2:c.-212G>T
  • NM_001351498.2:c.-45G>T
  • NM_001351499.2:c.-559G>T
  • NM_001351500.2:c.-559G>T
  • NM_001351501.2:c.-559G>T
  • NM_001351502.2:c.-559G>T
  • NM_006731.2:c.-45G>T
  • LRG_434t1:c.-45G>T
  • LRG_434t2:c.-45G>T
  • LRG_434:g.21859G>T
  • NC_000009.11:g.108337269G>T
  • NM_001079802.1:c.-45G>T
  • NM_001079802.2:c.-45G>T
  • NR_147213.2:n.171G>T
  • NR_147214.2:n.79G>T
Links:
dbSNP: rs77013649
NCBI 1000 Genomes Browser:
rs77013649
Molecular consequence:
  • NM_001079802.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001198963.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351496.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351497.2:c.-212G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351498.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351499.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006731.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_147213.2:n.171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.79G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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
SCV001933490Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001933490.1

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

Last Updated: Oct 8, 2024