NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Jul 10, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV000172484.18

Allele description [Variation Report for NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)]

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

HGVS:

NC_000002.12:g.178782896C>T
NG_011618.3:g.52907G>A
NM_001256850.1:c.3010G>A
NM_001267550.2:c.3010G>AMANE SELECT
NM_003319.4:c.2872G>A
NM_133378.4:c.3010G>A
NM_133379.5:c.3010G>A
NM_133432.3:c.2872G>A
NM_133437.4:c.2872G>A
NP_001243779.1:p.Glu1004Lys
NP_001254479.2:p.Glu1004Lys
NP_003310.4:p.Glu958Lys
NP_596869.4:p.Glu1004Lys
NP_596870.2:p.Glu1004Lys
NP_597676.3:p.Glu958Lys
NP_597681.4:p.Glu958Lys
LRG_391t1:c.3010G>A
LRG_391:g.52907G>A
NC_000002.11:g.179647623C>T
NM_001267550.1:c.3010G>A

Protein change:

E1004K

Links:

dbSNP: rs200902055

NCBI 1000 Genomes Browser:

rs200902055

Molecular consequence:

NM_001256850.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133379.5:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000051236	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013))	Uncertain significance (Jun 24, 2013)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV000714987	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 10, 2020)	germline	clinical testing	Citation Link,
SCV000844670	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Sep 15, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000855033	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 15, 2018)	germline	clinical testing	Citation Link

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	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

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 Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000051236.1

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000714987.3

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

Description

This variant is associated with the following publications: (PMID: 23861362)

#	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, SCV000844670.1

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

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

From Eurofins Ntd Llc (ga), SCV000855033.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Aug 25, 2024

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