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NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2021
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:
RCV002505907.1

Allele description [Variation Report for NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)]

NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
HGVS:
  • NC_000002.12:g.178672412G>A
  • NG_011618.3:g.163391C>T
  • NM_001256850.1:c.33803C>T
  • NM_001267550.2:c.34925C>TMANE SELECT
  • NM_003319.4:c.13283-30095C>T
  • NM_133378.4:c.31022C>T
  • NM_133432.3:c.13658-30095C>T
  • NM_133437.4:c.13859-30095C>T
  • NP_001243779.1:p.Ala11268Val
  • NP_001254479.2:p.Ala11642Val
  • NP_596869.4:p.Ala10341Val
  • LRG_391:g.163391C>T
  • NC_000002.11:g.179537139G>A
  • NM_001267550.2:c.34925C>T
Protein change:
A10341V
Links:
dbSNP: rs375391365
NCBI 1000 Genomes Browser:
rs375391365
Molecular consequence:
  • NM_003319.4:c.13283-30095C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-30095C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-30095C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.33803C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.34925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.31022C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
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
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:
Early-onset myopathy with fatal cardiomyopathy (CMYP5)
Synonyms:
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705
Name:
Hypertrophic cardiomyopathy 9
Synonyms:
Familial hypertrophic cardiomyopathy 9
Identifiers:
MONDO: MONDO:0013412; MedGen: C1861065; OMIM: 613765

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002814521Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 1, 2021) 		unknownclinical testing

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

Help

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, SCV002814521.1

#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: Apr 15, 2024