NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) AND Limb-girdle muscular dystrophy, type 2J

Clinical significance:Benign (Last evaluated: Aug 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000577965.1

Allele description [Variation Report for NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)]

NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)
HGVS:
  • NC_000002.12:g.178733828C>A
  • NG_011618.3:g.101975G>T
  • NM_001256850.1:c.14610G>T
  • NM_001267550.2:c.15561G>TMANE SELECT
  • NM_003319.4:c.13282+4254G>T
  • NM_133378.4:c.11829G>T
  • NM_133432.3:c.13657+4254G>T
  • NM_133437.4:c.13858+4254G>T
  • NP_001243779.1:p.Leu4870=
  • NP_001254479.2:p.Leu5187=
  • NP_596869.4:p.Leu3943=
  • LRG_391:g.101975G>T
  • NC_000002.11:g.179598555C>A
Links:
dbSNP: rs779159076
NCBI 1000 Genomes Browser:
rs779159076
Molecular consequence:
  • NM_003319.4:c.13282+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.14610G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.15561G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.11829G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

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
SCV000679952Phosphorus, Inc.criteria provided, single submitter
Benign
(Aug 1, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266

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 Phosphorus, Inc., SCV000679952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2021

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