NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 21, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000155842.1

Allele description [Variation Report for NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)]

NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
HGVS:
  • NC_000002.12:g.178739713A>G
  • NG_011618.3:g.96090T>C
  • NM_001256850.1:c.12569T>C
  • NM_001267550.2:c.13520T>CMANE SELECT
  • NM_003319.4:c.12431T>C
  • NM_133378.4:c.10361-1353T>C
  • NM_133432.3:c.12806T>C
  • NM_133437.4:c.13007T>C
  • NP_001243779.1:p.Met4190Thr
  • NP_001254479.2:p.Met4507Thr
  • NP_003310.4:p.Met4144Thr
  • NP_597676.3:p.Met4269Thr
  • NP_597681.4:p.Met4336Thr
  • LRG_391:g.96090T>C
  • NC_000002.11:g.179604440A>G
Protein change:
M4144T
Links:
dbSNP: rs191968963
NCBI 1000 Genomes Browser:
rs191968963
Molecular consequence:
  • NM_133378.4:c.10361-1353T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.12569T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.13520T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.12431T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.12806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.13007T>C - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000205553Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Mar 21, 2014)
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, SCV000205553.5

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

Description

The Met4269Thr variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/196 Iberian chromosomes by the 1 000 Genomes Project (dbSNP 191968963). Computational prediction tools suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. Additional information is needed to full y assess the clinical significance of the Met4269Thr variant.

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

Last Updated: Nov 27, 2021

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