NM_001267550.2(TTN):c.57263-4C>T AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 19, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152284.4

Allele description [Variation Report for NM_001267550.2(TTN):c.57263-4C>T]

NM_001267550.2(TTN):c.57263-4C>T

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.57263-4C>T
HGVS:
  • NC_000002.12:g.178597823G>A
  • NG_011618.3:g.237980C>T
  • NG_051363.1:g.79997G>A
  • NM_001256850.1:c.52340-4C>T
  • NM_001267550.2:c.57263-4C>TMANE SELECT
  • NM_003319.4:c.30068-4C>T
  • NM_133378.4:c.49559-4C>T
  • NM_133432.3:c.30443-4C>T
  • NM_133437.4:c.30644-4C>T
  • LRG_391:g.237980C>T
  • NC_000002.11:g.179462550G>A
Links:
dbSNP: rs373552048
NCBI 1000 Genomes Browser:
rs373552048
Molecular consequence:
  • NM_001256850.1:c.52340-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.57263-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.30068-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.49559-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.30443-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.30644-4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000201141Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Mar 19, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000201141.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

49559-4C>T in intron 242 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 0.1% (3/3188) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS). 49559-4C>T in intron 242 of TTN (allele frequency = 0.1%, 3/3188) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Aug 17, 2021

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