NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Apr 9, 2025
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:: RCV000040205.24

Allele description [Variation Report for NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)]

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

Other names:

p.V11859F:GTT>TTT

HGVS:

NC_000002.12:g.178642297C>A
NG_011618.3:g.193506G>T
NM_001256850.1:c.35575G>T
NM_001267550.2:c.40498G>TMANE SELECT
NM_003319.4:c.13303G>T
NM_133378.4:c.32794G>T
NM_133432.3:c.13678G>T
NM_133437.4:c.13879G>T
NP_001243779.1:p.Val11859Phe
NP_001254479.2:p.Val13500Phe
NP_003310.4:p.Val4435Phe
NP_596869.4:p.Val10932Phe
NP_596869.4:p.Val10932Phe
NP_597676.3:p.Val4560Phe
NP_597681.4:p.Val4627Phe
LRG_391t1:c.40498G>T
LRG_391:g.193506G>T
NC_000002.11:g.179507024C>A
NM_001267550.1:c.40498G>T
c.32794G>T

Protein change:

V10932F

Links:

dbSNP: rs201944202

Molecular consequence:

NM_001256850.1:c.35575G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.40498G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.13303G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.32794G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.13678G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.13879G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000063896	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 26, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002511923	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Apr 9, 2022)	germline	clinical testing	Citation Link,
SCV006068764	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 9, 2025)	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

SCV000063896

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 26, 2018)

germline

clinical testing

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

SCV002511923

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Apr 9, 2022)

germline

clinical testing

Citation Link,

SCV006068764

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 9, 2025)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	3	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000063896.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

Description

The p.Val10932Phe variant in TTN is classified as likely benign because it has b een identified in 0.1% (132/111288) of European chromosomes by gnomAD (http://gn omad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		3	not provided	3	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002511923.1

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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV006068764.1

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

Description

BS1;BP1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 16, 2026

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