NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 11, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040514.4

Allele description [Variation Report for NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)]

NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)

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.66917T>C (p.Ile22306Thr)
HGVS:
  • NC_000002.12:g.178580462A>G
  • NG_011618.3:g.255341T>C
  • NG_051363.1:g.62636A>G
  • NM_001256850.1:c.61994T>C
  • NM_001267550.2:c.66917T>CMANE SELECT
  • NM_003319.4:c.39722T>C
  • NM_133378.4:c.59213T>C
  • NM_133432.3:c.40097T>C
  • NM_133437.4:c.40298T>C
  • NP_001243779.1:p.Ile20665Thr
  • NP_001254479.2:p.Ile22306Thr
  • NP_003310.4:p.Ile13241Thr
  • NP_596869.4:p.Ile19738Thr
  • NP_597676.3:p.Ile13366Thr
  • NP_597681.4:p.Ile13433Thr
  • LRG_391:g.255341T>C
  • NC_000002.11:g.179445189A>G
  • c.59213T>C
Protein change:
I13241T
Links:
dbSNP: rs397517667
NCBI 1000 Genomes Browser:
rs397517667
Molecular consequence:
  • NM_001256850.1:c.61994T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.66917T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.39722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.59213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.40097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.40298T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000064205Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Mar 11, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not 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, SCV000064205.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Ile19738Thr variant in TTN has been identified by our laboratory in 1 Ashk enazi Jewish individual with HCM. This variant has also been identified in 0.04% (26/66514) of European chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs397517667). Isoleucine (Ile) at position 19738 is not conserved in evolution and 1 mammal (killer whale) carries a threon ine (Thr) at this position, raising the possibility that this change may be tole rated. In summary, the clinical significance of the p.Ile19738Thr variant is unc ertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Oct 2, 2021

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