NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) AND Hypertrophic cardiomyopathy

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 26, 2017
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:: RCV000353742.12

Allele description [Variation Report for NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)]

NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)

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.89386G>A (p.Val29796Met)

Other names:

p.V28155M:GTG>ATG

HGVS:

NC_000002.12:g.178553619C>T
NG_011618.3:g.282184G>A
NG_051363.1:g.35793C>T
NM_001256850.1:c.84463G>A
NM_001267550.2:c.89386G>AMANE SELECT
NM_003319.4:c.62191G>A
NM_133378.4:c.81682G>A
NM_133432.3:c.62566G>A
NM_133437.4:c.62767G>A
NP_001243779.1:p.Val28155Met
NP_001254479.2:p.Val29796Met
NP_003310.4:p.Val20731Met
NP_596869.4:p.Val27228Met
NP_596869.4:p.Val27228Met
NP_597676.3:p.Val20856Met
NP_597681.4:p.Val20923Met
LRG_391:g.282184G>A
NC_000002.11:g.179418346C>T

Protein change:

V20731M

Links:

dbSNP: rs72648237

NCBI 1000 Genomes Browser:

rs72648237

Molecular consequence:

NM_001256850.1:c.84463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.89386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.62191G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.81682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.62566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.62767G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995524	Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 26, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001434033	Genetics and Genomics Program, Sidra Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995524

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 26, 2017)

germline

clinical testing

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

SCV001434033

Genetics and Genomics Program, Sidra Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

unknown

research

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	unknown	yes	1	not provided	not provided	not provided	not provided	research
not provided	germline	yes	2	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, SCV000995524.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Genetics and Genomics Program, Sidra Medicine, SCV001434033.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine