NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) AND none provided

delete

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 28, 2021
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:: RCV001285086.3

Allele description

NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)

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.95555T>C (p.Leu31852Pro)

Other names:

p.L29284P:CTG>CCG

HGVS:

NC_000002.12:g.178545555A>G
NG_011618.3:g.290248T>C
NG_051363.1:g.27729A>G
NM_001256850.1:c.90632T>C
NM_001267550.2:c.95555T>CMANE SELECT
NM_003319.4:c.68360T>C
NM_133378.4:c.87851T>C
NM_133432.3:c.68735T>C
NM_133437.4:c.68936T>C
NP_001243779.1:p.Leu30211Pro
NP_001254479.2:p.Leu31852Pro
NP_003310.4:p.Leu22787Pro
NP_596869.4:p.Leu29284Pro
NP_597676.3:p.Leu22912Pro
NP_597681.4:p.Leu22979Pro
LRG_391t1:c.95555T>C
LRG_391:g.290248T>C
NC_000002.11:g.179410282A>G
NM_001267550.1:c.95555T>C
c.87851T>C

Protein change:

L22787P

Links:

dbSNP: rs62621206

NCBI 1000 Genomes Browser:

rs62621206

Molecular consequence:

NM_001256850.1:c.90632T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.95555T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.68360T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.87851T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.68735T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.68936T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: none provided
Identifiers:: MedGen: CN235283

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001471437	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Benign (Apr 28, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001471437

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Benign
(Apr 28, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471437.2

#	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

Last Updated: Jan 8, 2022

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