NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 16, 2019
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:: RCV000852821.1

Allele description [Variation Report for NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)]

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

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.67099T>C (p.Ser22367Pro)

Other names:

p.S20726P:TCC>CCC; p.Ser20726Pro

HGVS:

NC_000002.12:g.178580188A>G
NG_011618.3:g.255615T>C
NG_051363.1:g.62362A>G
NM_001256850.1:c.62176T>C
NM_001267550.2:c.67099T>CMANE SELECT
NM_003319.4:c.39904T>C
NM_133378.4:c.59395T>C
NM_133432.3:c.40279T>C
NM_133437.4:c.40480T>C
NP_001243779.1:p.Ser20726Pro
NP_001254479.2:p.Ser22367Pro
NP_003310.4:p.Ser13302Pro
NP_596869.4:p.Ser19799Pro
NP_597676.3:p.Ser13427Pro
NP_597681.4:p.Ser13494Pro
LRG_391t1:c.67099T>C
LRG_391:g.255615T>C
NC_000002.11:g.179444915A>G
NM_001267550.1:c.67099T>C
c.59395T>C

Protein change:

S13302P

Links:

dbSNP: rs72646873

Molecular consequence:

NM_001256850.1:c.62176T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.67099T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.39904T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.59395T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.40279T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.40480T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Name:: Brugada syndrome
Synonyms:: Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995550	Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 16, 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

SCV000995550

Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Feb 16, 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	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 Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995550.1

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

Last Updated: Jul 27, 2026

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