NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) AND not provided

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Sep 21, 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:: RCV000118788.24

Allele description [Variation Report for NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)]

NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)

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.90638T>C (p.Ile30213Thr)

HGVS:

NC_000002.12:g.178552262A>G
NG_011618.3:g.283541T>C
NG_051363.1:g.34436A>G
NM_001256850.1:c.85715T>C
NM_001267550.2:c.90638T>CMANE SELECT
NM_003319.4:c.63443T>C
NM_133378.4:c.82934T>C
NM_133432.3:c.63818T>C
NM_133437.4:c.64019T>C
NP_001243779.1:p.Ile28572Thr
NP_001254479.1:p.Ile30213Thr
NP_001254479.2:p.Ile30213Thr
NP_003310.4:p.Ile21148Thr
NP_596869.4:p.Ile27645Thr
NP_597676.3:p.Ile21273Thr
NP_597681.4:p.Ile21340Thr
LRG_391t1:c.90638T>C
LRG_391:g.283541T>C
LRG_391p1:p.Ile30213Thr
NC_000002.11:g.179416989A>G
NM_001267550.1:c.90638T>C
NM_133379.3:c.*193323T>C

Protein change:

I21148T

Links:

dbSNP: rs114026724

NCBI 1000 Genomes Browser:

rs114026724

Molecular consequence:

NM_001256850.1:c.85715T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.90638T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.63443T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.82934T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.63818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.64019T>C - 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
SCV001471545	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Sep 21, 2023)	germline	clinical testing	Citation Link,
SCV001799268	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV005259386	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	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

SCV001471545

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Sep 21, 2023)

germline

clinical testing

Citation Link,

SCV001799268

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV005259386

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471545.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799268.1

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005259386.1

#	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: Nov 24, 2024

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