NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 15, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)]

NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)
  • NC_000002.12:g.178537792T>C
  • NG_011618.3:g.298011A>G
  • NG_051363.1:g.19966T>C
  • NM_001256850.1:c.94492A>G
  • NM_001267550.2:c.99415A>GMANE SELECT
  • NM_003319.4:c.72220A>G
  • NM_133378.4:c.91711A>G
  • NM_133432.3:c.72595A>G
  • NM_133437.4:c.72796A>G
  • NP_001243779.1:p.Lys31498Glu
  • NP_001254479.2:p.Lys33139Glu
  • NP_003310.4:p.Lys24074Glu
  • NP_596869.4:p.Lys30571Glu
  • NP_597676.3:p.Lys24199Glu
  • NP_597681.4:p.Lys24266Glu
  • LRG_391t1:c.99415A>G
  • LRG_391:g.298011A>G
  • NC_000002.11:g.179402519T>C
  • NM_001267550.1:c.99415A>G
Protein change:
dbSNP: rs779723670
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001256850.1:c.94492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.99415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.72220A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.91711A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.72595A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.72796A>G - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000727947GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 6, 2019)
germlineclinical testing

Citation Link,

SCV001475826Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Apr 15, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing



Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, et al.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PubMed [citation]

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

Details of each submission

From GeneDx, SCV000727947.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001475826.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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