NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) AND Limb-girdle muscular dystrophy, type 2J

Clinical significance:Uncertain significance (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:
RCV000578013.1

Allele description [Variation Report for NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)]

NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)

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.51625G>A (p.Ala17209Thr)
HGVS:
  • NC_000002.12:g.178609798C>T
  • NG_011618.3:g.226005G>A
  • NG_051363.1:g.91972C>T
  • NM_001256850.1:c.46702G>A
  • NM_001267550.2:c.51625G>AMANE SELECT
  • NM_003319.4:c.24430G>A
  • NM_133378.4:c.43921G>A
  • NM_133432.3:c.24805G>A
  • NM_133437.4:c.25006G>A
  • NP_001243779.1:p.Ala15568Thr
  • NP_001254479.2:p.Ala17209Thr
  • NP_003310.4:p.Ala8144Thr
  • NP_596869.4:p.Ala14641Thr
  • NP_597676.3:p.Ala8269Thr
  • NP_597681.4:p.Ala8336Thr
  • LRG_391:g.226005G>A
  • NC_000002.11:g.179474525C>T
Protein change:
A14641T
Links:
dbSNP: rs1292930837
NCBI 1000 Genomes Browser:
rs1292930837
Molecular consequence:
  • NM_001256850.1:c.46702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.51625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.24430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.43921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.24805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.25006G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000679967Phosphorus, Inc.criteria provided, single submitter
Uncertain significance
(Aug 1, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not 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 Phosphorus, Inc., SCV000679967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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