NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765557.1

Allele description [Variation Report for NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)]

NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

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.66430G>A (p.Ala22144Thr)
HGVS:
  • NC_000002.12:g.178581939C>T
  • NG_011618.3:g.253864G>A
  • NG_051363.1:g.64113C>T
  • NM_001256850.1:c.61507G>A
  • NM_001267550.2:c.66430G>AMANE SELECT
  • NM_003319.4:c.39235G>A
  • NM_133378.4:c.58726G>A
  • NM_133432.3:c.39610G>A
  • NM_133437.4:c.39811G>A
  • NP_001243779.1:p.Ala20503Thr
  • NP_001254479.2:p.Ala22144Thr
  • NP_003310.4:p.Ala13079Thr
  • NP_596869.4:p.Ala19576Thr
  • NP_597676.3:p.Ala13204Thr
  • NP_597681.4:p.Ala13271Thr
  • LRG_391:g.253864G>A
  • NC_000002.11:g.179446666C>T
  • p.Ala20503Thr
Protein change:
A13079T
Links:
dbSNP: rs183276016
NCBI 1000 Genomes Browser:
rs183276016
Molecular consequence:
  • NM_001256850.1:c.61507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.66430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.39235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.58726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.39610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.39811G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
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
Name:
Tibial muscular dystrophy (TMD)
Synonyms:
Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334
Name:
Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
Synonyms:
EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
Name:
Myopathy, early-onset, with fatal cardiomyopathy (SALMY)
Synonyms:
Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705
Name:
Familial hypertrophic cardiomyopathy 9 (CMH9)
Identifiers:
MONDO: MONDO:0013412; MedGen: C1861065; OMIM: 613765

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896872Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000896872.1

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

Last Updated: Sep 6, 2021

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