NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) AND not specified

Germline classification:: Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:: Jul 30, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000040905.29

Allele description [Variation Report for NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)]

NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)

Other names:

p.R3120Q:CGG>CAG

HGVS:

NC_000002.12:g.178767871C>T
NG_011618.3:g.67932G>A
NM_001256850.1:c.9359G>A
NM_001267550.2:c.9359G>AMANE SELECT
NM_003319.4:c.9221G>A
NM_133378.4:c.9359G>A
NM_133379.5:c.9359G>A
NM_133432.3:c.9221G>A
NM_133437.4:c.9221G>A
NP_001243779.1:p.Arg3120Gln
NP_001254479.2:p.Arg3120Gln
NP_003310.4:p.Arg3074Gln
NP_596869.4:p.Arg3120Gln
NP_596869.4:p.Arg3120Gln
NP_596870.2:p.Arg3120Gln
NP_597676.3:p.Arg3074Gln
NP_597681.4:p.Arg3074Gln
LRG_391:g.67932G>A
NC_000002.11:g.179632598C>T
NM_001267550.1:c.9359G>A
c.9359G>A

Protein change:

R3074Q

Links:

dbSNP: rs72647894

NCBI 1000 Genomes Browser:

rs72647894

Molecular consequence:

NM_001256850.1:c.9359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.9359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.9221G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.9359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133379.5:c.9359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.9221G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.9221G>A - 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
SCV000064596	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 10, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20890277, 24033266
SCV000238058	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Aug 23, 2016)	germline	clinical testing	Citation Link,
SCV000249289	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 3, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000332662	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Jul 2, 2015)	germline	clinical testing	Citation Link,
SCV001879719	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Feb 8, 2021)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 25626705, 26773040, 25979592, 24459294, 26467025
SCV002571005	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jul 30, 2022)	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	not provided	10	10	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.

Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, et al.

Nat Genet. 2010 Nov;42(11):969-72. doi: 10.1038/ng.680. Epub 2010 Oct 3.

PubMed [citation]

PMID:: 20890277

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

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000064596.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	PubMed (2)

Description

p.Arg3120Gln in exon 40 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (77/6606) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs72647894).

#	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		10	not provided	10	not provided

From GeneDx, SCV000238058.6

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Genetic Services Laboratory, University of Chicago, SCV000249289.1

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

From Eurofins Ntd Llc (ga), SCV000332662.3

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

From Athena Diagnostics, SCV001879719.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002571005.1

#	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

Last Updated: Oct 8, 2024

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