NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2022
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:: RCV002483023.1

Allele description [Variation Report for NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)]

NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)

Genes:

LOC126806432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)

HGVS:

NC_000002.12:g.178748416T>C
NG_011618.3:g.87387A>G
NM_001256850.1:c.10360+4708A>G
NM_001267550.2:c.11311+4708A>GMANE SELECT
NM_003319.4:c.10222+4708A>G
NM_133378.4:c.10360+4708A>G
NM_133379.5:c.13984A>G
NM_133432.3:c.10597+4708A>G
NM_133437.4:c.10798+4708A>G
NP_596870.2:p.Ile4662Val
LRG_391:g.87387A>G
NC_000002.11:g.179613143T>C
NM_133379.3:c.13984A>G
NM_133379.5:c.13984A>G
c.13984A>G

Protein change:

I4662V

Links:

dbSNP: rs374783099

NCBI 1000 Genomes Browser:

rs374783099

Molecular consequence:

NM_001256850.1:c.10360+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.11311+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.10222+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.10360+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.10597+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.10798+4708A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133379.5:c.13984A>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002786711	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 31, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002786711

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 31, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002786711.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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