NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) AND Limb-girdle muscular dystrophy, type 2J

Clinical significance:Uncertain significance (Last evaluated: May 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001132845.1

Allele description [Variation Report for NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)]

NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
HGVS:
  • NC_000002.12:g.178530049T>C
  • NG_011618.3:g.305754A>G
  • NG_051363.1:g.12223T>C
  • NM_001256850.1:c.101519A>G
  • NM_001267550.2:c.106442A>GMANE SELECT
  • NM_003319.4:c.79247A>G
  • NM_133378.4:c.98738A>G
  • NM_133432.3:c.79622A>G
  • NM_133437.4:c.79823A>G
  • NP_001243779.1:p.Lys33840Arg
  • NP_001254479.2:p.Lys35481Arg
  • NP_003310.4:p.Lys26416Arg
  • NP_596869.4:p.Lys32913Arg
  • NP_597676.3:p.Lys26541Arg
  • NP_597681.4:p.Lys26608Arg
  • LRG_391:g.305754A>G
  • NC_000002.11:g.179394776T>C
Protein change:
K26416R
Links:
dbSNP: rs200716018
NCBI 1000 Genomes Browser:
rs200716018
Molecular consequence:
  • NM_001256850.1:c.101519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.106442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.79247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.98738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.79622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.79823A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Limb-girdle muscular dystrophy, type 2J (LGMDR10)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:
MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001292524Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(May 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001292524.1

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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

Last Updated: Sep 6, 2021

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