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

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 15, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001288587.12

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

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

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.99415A>G (p.Lys33139Glu)

HGVS:

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:

K24074E

Links:

dbSNP: rs779723670

NCBI 1000 Genomes Browser:

rs779723670

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000727947	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 6, 2019)	germline	clinical testing	Citation Link,
SCV001475826	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Apr 15, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30365001, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000727947

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 6, 2019)

germline

clinical testing

Citation Link,

SCV001475826

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Apr 15, 2020)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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]

PMID:: 30365001

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]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000727947.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001475826.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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