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NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) AND Cardiomyopathy

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Oct 13, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000852836.11

Allele description [Variation Report for NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)]

NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)

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.57478G>C (p.Val19160Leu)
HGVS:
  • NC_000002.12:g.178597604C>G
  • NG_011618.3:g.238199G>C
  • NG_051363.1:g.79778C>G
  • NM_001256850.1:c.52555G>C
  • NM_001267550.2:c.57478G>CMANE SELECT
  • NM_003319.4:c.30283G>C
  • NM_133378.4:c.49774G>C
  • NM_133432.3:c.30658G>C
  • NM_133437.4:c.30859G>C
  • NP_001243779.1:p.Val17519Leu
  • NP_001254479.2:p.Val19160Leu
  • NP_003310.4:p.Val10095Leu
  • NP_596869.4:p.Val16592Leu
  • NP_597676.3:p.Val10220Leu
  • NP_597681.4:p.Val10287Leu
  • LRG_391:g.238199G>C
  • NC_000002.11:g.179462331C>G
  • NR_038271.1:n.605C>G
  • NR_038272.1:n.3373C>G
Protein change:
V10095L
Links:
dbSNP: rs200778464
NCBI 1000 Genomes Browser:
rs200778464
Molecular consequence:
  • NM_001256850.1:c.52555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.57478G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.30283G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.49774G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.30658G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.30859G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038271.1:n.605C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_038272.1:n.3373C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995566Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jan 10, 2019)
germlineclinical testing

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

SCV003838597CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Oct 13, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995566.1

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

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV003838597.1

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

Last Updated: Nov 24, 2024