NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 17, 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:: RCV003137956.4

Allele description [Variation Report for NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)]

NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)

HGVS:

NC_000002.12:g.178732260G>A
NG_011618.3:g.103543C>T
NM_001256850.1:c.15758C>T
NM_001267550.2:c.16709C>TMANE SELECT
NM_003319.4:c.13282+5822C>T
NM_133378.4:c.12977C>T
NM_133432.3:c.13657+5822C>T
NM_133437.4:c.13858+5822C>T
NP_001243779.1:p.Thr5253Ile
NP_001254479.2:p.Thr5570Ile
NP_596869.4:p.Thr4326Ile
LRG_391:g.103543C>T
NC_000002.11:g.179596987G>A

Protein change:

T4326I

Links:

dbSNP: rs535319438

NCBI 1000 Genomes Browser:

rs535319438

Molecular consequence:

NM_003319.4:c.13282+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+5822C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.15758C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.16709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.12977C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003826547	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005188158	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003826547

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

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

SCV005188158

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	not provided	not provided	not provided	not provided	not provided	not provided

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 Revvity Omics, Revvity, SCV003826547.2

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005188158.1

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

#	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

Last Updated: Jan 13, 2025

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