NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 1, 2023
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:: RCV003137662.20

Allele description [Variation Report for NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)]

NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)

HGVS:

NC_000002.12:g.178776666G>A
NG_011618.3:g.59137C>T
NM_001256850.1:c.5198C>T
NM_001267550.2:c.5198C>TMANE SELECT
NM_003319.4:c.5060C>T
NM_133378.4:c.5198C>T
NM_133379.5:c.5198C>T
NM_133432.3:c.5060C>T
NM_133437.4:c.5060C>T
NP_001243779.1:p.Thr1733Met
NP_001254479.2:p.Thr1733Met
NP_003310.4:p.Thr1687Met
NP_596869.4:p.Thr1733Met
NP_596870.2:p.Thr1733Met
NP_597676.3:p.Thr1687Met
NP_597681.4:p.Thr1687Met
LRG_391:g.59137C>T
NC_000002.11:g.179641393G>A

Protein change:

T1687M

Links:

dbSNP: rs367700246

NCBI 1000 Genomes Browser:

rs367700246

Molecular consequence:

NM_001256850.1:c.5198C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.5198C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.5060C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.5198C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133379.5:c.5198C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.5060C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.5060C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002063978	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Dec 1, 2023)	germline	clinical testing	Citation Link,
SCV003825513	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 12, 2019)	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

SCV002063978

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Dec 1, 2023)

germline

clinical testing

Citation Link,

SCV003825513

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 12, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002063978.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003825513.2

#	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

Last Updated: Mar 11, 2025

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