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NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) AND Autosomal recessive limb-girdle muscular dystrophy type 2J

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2018
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:
RCV001132848.12

Allele description [Variation Report for NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)]

NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)

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.106343G>A (p.Arg35448Gln)
Other names:
p.R33807Q:CGG>CAG
HGVS:
  • NC_000002.12:g.178530272C>T
  • NG_011618.3:g.305531G>A
  • NG_051363.1:g.12446C>T
  • NM_001256850.1:c.101420G>A
  • NM_001267550.2:c.106343G>AMANE SELECT
  • NM_003319.4:c.79148G>A
  • NM_133378.4:c.98639G>A
  • NM_133432.3:c.79523G>A
  • NM_133437.4:c.79724G>A
  • NP_001243779.1:p.Arg33807Gln
  • NP_001254479.2:p.Arg35448Gln
  • NP_003310.4:p.Arg26383Gln
  • NP_596869.4:p.Arg32880Gln
  • NP_597676.3:p.Arg26508Gln
  • NP_597681.4:p.Arg26575Gln
  • LRG_391:g.305531G>A
  • NC_000002.11:g.179394999C>T
Protein change:
R26383Q
Links:
dbSNP: rs369703073
NCBI 1000 Genomes Browser:
rs369703073
Molecular consequence:
  • NM_001256850.1:c.101420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.106343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.79148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.98639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.79523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.79724G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
Synonyms:
Limb-girdle muscular dystrophy, type 2J; 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

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001292527Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL Variant Classification Criteria 13 December 2019)    		Uncertain significance
    (Jan 13, 2018)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV001292527.1

    #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: Oct 26, 2024