NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 1, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000218769.6

Allele description [Variation Report for NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)]

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)

Other names:

p.K9432E:AAG>GAG

HGVS:

NC_000002.12:g.178689122T>C
NG_011618.3:g.146681A>G
NM_001256850.1:c.31075A>G
NM_001267550.2:c.32026A>GMANE SELECT
NM_003319.4:c.13283-46805A>G
NM_133378.4:c.28294A>G
NM_133432.3:c.13658-46805A>G
NM_133437.4:c.13859-46805A>G
NP_001243779.1:p.Lys10359Glu
NP_001254479.2:p.Lys10676Glu
NP_596869.4:p.Lys9432Glu
LRG_391:g.146681A>G
NC_000002.11:g.179553849T>C
NM_001256850.1:c.31075A>G
NM_001267550.1:c.32026A>G

Protein change:

K10359E

Links:

dbSNP: rs200952728

NCBI 1000 Genomes Browser:

rs200952728

Molecular consequence:

NM_003319.4:c.13283-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.31075A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.32026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.28294A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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COG5 [Pseudopodoces humilis]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272624	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Apr 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000272624

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Apr 1, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical 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, Mass General Brigham Personalized Medicine, SCV000272624.3

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

Description

The p.Lys9432Glu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 13/66672 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s200952728). Computational prediction tools and conservation analysis suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, the clinical significance of the p.Lys9432Glu variant is uncertain.

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

Last Updated: Sep 29, 2024

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