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NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 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:
RCV001839799.10

Allele description [Variation Report for NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)]

NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
Other names:
p.I3841V:ATT>GTT
HGVS:
  • NC_000002.12:g.178740998T>C
  • NG_011618.3:g.94805A>G
  • NM_001256850.1:c.11284A>G
  • NM_001267550.2:c.12235A>GMANE SELECT
  • NM_003319.4:c.11146A>G
  • NM_133378.4:c.10361-2638A>G
  • NM_133432.3:c.11521A>G
  • NM_133437.4:c.11722A>G
  • NP_001243779.1:p.Ile3762Val
  • NP_001254479.2:p.Ile4079Val
  • NP_003310.4:p.Ile3716Val
  • NP_597676.3:p.Ile3841Val
  • NP_597681.4:p.Ile3908Val
  • LRG_391t1:c.12235A>G
  • LRG_391:g.94805A>G
  • NC_000002.11:g.179605725T>C
  • NM_001267550.1:c.12235A>G
  • c.11521A>G
Protein change:
I3716V
Links:
dbSNP: rs34070843
NCBI 1000 Genomes Browser:
rs34070843
Molecular consequence:
  • NM_133378.4:c.10361-2638A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.11284A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.12235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.11146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.11521A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.11722A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002100847Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002100847.1

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

Last Updated: Oct 20, 2024