NM_001267550.2(TTN):c.17183-7C>T AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jun 7, 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:: RCV000039892.17

Allele description [Variation Report for NM_001267550.2(TTN):c.17183-7C>T]

NM_001267550.2(TTN):c.17183-7C>T

Genes:

LOC126806431:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.17183-7C>T

HGVS:

NC_000002.12:g.178731590G>A
NG_011618.3:g.104213C>T
NM_001256850.1:c.16232-7C>T
NM_001267550.2:c.17183-7C>TMANE SELECT
NM_003319.4:c.13282+6492C>T
NM_133378.4:c.13451-7C>T
NM_133432.3:c.13657+6492C>T
NM_133437.4:c.13858+6492C>T
LRG_391:g.104213C>T
NC_000002.11:g.179596317G>A
NM_001267550.1:c.17183-7C>T
c.13451-7C>T

Links:

dbSNP: rs371785683

NCBI 1000 Genomes Browser:

rs371785683

Molecular consequence:

NM_001256850.1:c.16232-7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.17183-7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.13282+6492C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.13451-7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+6492C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+6492C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000063583	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Jan 26, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000249235	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 10, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000515096	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Mar 27, 2015)	germline	clinical testing	Citation Link,
SCV001880221	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Jun 7, 2021)	unknown	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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	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

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

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, SCV000063583.7

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

Description

13451-7C>T in intron 55 of TTN: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the splice consensus sequence and does not impact splicing. Additionally, it has been identified in 0.9% (215/25030) South Asian and 0.02% (17/104638) European chromosomes by gnomAD (https://gnomad.broadinstitute.org/). ACMG/AMP criteria applied: BS1, BS4.

#	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 Genetic Services Laboratory, University of Chicago, SCV000249235.1

#	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 GeneDx, SCV000515096.4

#	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 Athena Diagnostics, SCV001880221.1

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

Last Updated: Dec 22, 2024

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