NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: May 15, 2023
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:: RCV000216901.11

Allele description [Variation Report for NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)]

NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)

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.79700A>G (p.Asn26567Ser)

Other names:

p.N24926S:AAC>AGC

HGVS:

NC_000002.12:g.178566432T>C
NG_011618.3:g.269371A>G
NG_051363.1:g.48606T>C
NM_001256850.1:c.74777A>G
NM_001267550.2:c.79700A>GMANE SELECT
NM_003319.4:c.52505A>G
NM_133378.4:c.71996A>G
NM_133432.3:c.52880A>G
NM_133437.4:c.53081A>G
NP_001243779.1:p.Asn24926Ser
NP_001254479.2:p.Asn26567Ser
NP_003310.4:p.Asn17502Ser
NP_596869.4:p.Asn23999Ser
NP_597676.3:p.Asn17627Ser
NP_597681.4:p.Asn17694Ser
LRG_391t1:c.79700A>G
LRG_391:g.269371A>G
NC_000002.11:g.179431159T>C
NM_001267550.1:c.79700A>G

Protein change:

N17502S

Links:

dbSNP: rs183844833

NCBI 1000 Genomes Browser:

rs183844833

Molecular consequence:

NM_001256850.1:c.74777A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.79700A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.52505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.71996A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.52880A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.53081A>G - 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
SCV000269940	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 11, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000616151	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 12, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000701024	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Nov 2, 2016)	germline	clinical testing	Citation Link,
SCV003934180	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (May 15, 2023)	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	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269940.3

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

Description

p.Asn23999Ser in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.6% (137/8604) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs183844833).

#	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		1	not provided	1	not provided

From Athena Diagnostics, SCV000616151.1

#	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), SCV000701024.2

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003934180.1

#	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 20, 2024

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