NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) AND not specified

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Apr 9, 2021
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:: RCV000082426.22

Allele description [Variation Report for NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)]

NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)

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.70907G>A (p.Arg23636His)

HGVS:

NC_000002.12:g.178575225C>T
NG_011618.3:g.260578G>A
NG_051363.1:g.57399C>T
NM_001256850.1:c.65984G>A
NM_001267550.2:c.70907G>AMANE SELECT
NM_003319.4:c.43712G>A
NM_133378.4:c.63203G>A
NM_133432.3:c.44087G>A
NM_133437.4:c.44288G>A
NP_001243779.1:p.Arg21995His
NP_001254479.2:p.Arg23636His
NP_003310.4:p.Arg14571His
NP_596869.4:p.Arg21068His
NP_596869.4:p.Arg21068His
NP_597676.3:p.Arg14696His
NP_597681.4:p.Arg14763His
LRG_391t1:c.70907G>A
LRG_391:g.260578G>A
NC_000002.11:g.179439952C>T
NM_001267550.1:c.70907G>A

Protein change:

R14571H

Links:

dbSNP: rs56071233

NCBI 1000 Genomes Browser:

rs56071233

Molecular consequence:

NM_001256850.1:c.65984G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.70907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.43712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.63203G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.44087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.44288G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens chromosome 6 open reading frame 132 (C6orf132), mRNA
Homo sapiens chromosome 6 open reading frame 132 (C6orf132), mRNA
gi|1519313895|ref|NM_001164446.3|

Nucleotide
Homo sapiens voucher N12386 B subtype antigen gene, complete cds
Homo sapiens voucher N12386 B subtype antigen gene, complete cds
gi|529158560|gb|KC960559.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114428	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Sep 30, 2013)	germline	clinical testing	Citation Link,
SCV000204314	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Oct 21, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000616136	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 3, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001572415	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Apr 9, 2021)	germline	clinical testing	Citation Link,
SCV001919090	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	4	3	not provided	not provided	not provided	clinical testing
not provided	germline	yes	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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114428.8

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204314.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

Description

Arg21068His in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 5.1% (9/178) of Japanese chromosome s by the 1000 Genomes Project (dbSNP rs56071233).

#	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		4	not provided	3	not provided

From Athena Diagnostics, SCV000616136.1

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001572415.1

#	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 Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001919090.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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