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NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) AND Autosomal recessive limb-girdle muscular dystrophy type 2M

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV001563971.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)]

NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
HGVS:
  • NC_000009.12:g.105575050G>C
  • NG_008754.1:g.21921G>C
  • NM_001079802.2:c.18G>CMANE SELECT
  • NM_001198963.2:c.18G>C
  • NM_001351496.2:c.18G>C
  • NM_001351497.2:c.-150G>C
  • NM_001351498.2:c.18G>C
  • NM_001351499.2:c.-497G>C
  • NM_001351500.2:c.-497G>C
  • NM_001351501.2:c.-497G>C
  • NM_001351502.2:c.-497G>C
  • NM_006731.2:c.18G>C
  • NP_001073270.1:p.Lys6Asn
  • NP_001185892.1:p.Lys6Asn
  • NP_001338425.1:p.Lys6Asn
  • NP_001338427.1:p.Lys6Asn
  • NP_006722.2:p.Lys6Asn
  • LRG_434t1:c.18G>C
  • LRG_434t2:c.18G>C
  • LRG_434:g.21921G>C
  • LRG_434p2:p.Lys6Asn
  • NC_000009.11:g.108337331G>C
  • NM_001079802.1:c.18G>C
  • NR_147213.2:n.233G>C
  • NR_147214.2:n.141G>C
Protein change:
K6N
Links:
dbSNP: rs2132016533
NCBI 1000 Genomes Browser:
rs2132016533
Molecular consequence:
  • NM_001351497.2:c.-150G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351499.2:c.-497G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-497G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-497G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-497G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079802.2:c.18G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.18G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.18G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.18G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.18G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.233G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.141G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001787041Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 14, 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, SCV001787041.1

#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