NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) AND Long QT syndrome

Clinical significance:Likely benign (Last evaluated: Feb 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000852903.1

Allele description [Variation Report for NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)]

NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
Other names:
p.A5867T:GCA>ACA
HGVS:
  • NC_000002.12:g.178729703C>T
  • NG_011618.3:g.106100G>A
  • NM_001256850.1:c.17599G>A
  • NM_001267550.2:c.18550G>AMANE SELECT
  • NM_003319.4:c.13282+8379G>A
  • NM_133378.4:c.14818G>A
  • NM_133432.3:c.13657+8379G>A
  • NM_133437.4:c.13858+8379G>A
  • NP_001243779.1:p.Ala5867Thr
  • NP_001254479.2:p.Ala6184Thr
  • NP_596869.4:p.Ala4940Thr
  • LRG_391:g.106100G>A
  • NC_000002.11:g.179594430C>T
Protein change:
A4940T
Links:
dbSNP: rs72648947
NCBI 1000 Genomes Browser:
rs72648947
Molecular consequence:
  • NM_003319.4:c.13282+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.14818G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995642Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diegocriteria provided, single submitter
Likely benign
(Feb 11, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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, SCV000995642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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