U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 11, 2019
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:
RCV000852902.9

Allele description [Variation Report for NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)]

NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)

Genes:
LOC126806430:BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
Other names:
p.T5015S:ACC>AGC
HGVS:
  • NC_000002.12:g.178729380G>C
  • NG_011618.3:g.106423C>G
  • NM_001256850.1:c.17825C>G
  • NM_001267550.2:c.18776C>GMANE SELECT
  • NM_003319.4:c.13282+8702C>G
  • NM_133378.4:c.15044C>G
  • NM_133432.3:c.13657+8702C>G
  • NM_133437.4:c.13858+8702C>G
  • NP_001243779.1:p.Thr5942Ser
  • NP_001254479.2:p.Thr6259Ser
  • NP_596869.4:p.Thr5015Ser
  • NP_596869.4:p.Thr5015Ser
  • LRG_391:g.106423C>G
  • NC_000002.11:g.179594107G>C
  • NM_001267550.1:c.18776C>G
  • c.15044C>G
Protein change:
T5015S
Links:
dbSNP: rs72648949
NCBI 1000 Genomes Browser:
rs72648949
Molecular consequence:
  • NM_003319.4:c.13282+8702C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8702C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8702C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17825C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18776C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.15044C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MedGen: C0349788
Name:
Atrial fibrillation
Identifiers:
EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995641Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jun 11, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not 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, SCV000995641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 20, 2024