NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 12, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000220902.7

Allele description [Variation Report for NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)]

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

Genes:

LOC126806428:BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

Other names:

p.M6794T:ATG>ACG

HGVS:

NC_000002.12:g.178723927A>G
NG_011618.3:g.111876T>C
NM_001256850.1:c.20381T>C
NM_001267550.2:c.21332T>CMANE SELECT
NM_003319.4:c.13282+14155T>C
NM_133378.4:c.17600T>C
NM_133432.3:c.13657+14155T>C
NM_133437.4:c.13858+14155T>C
NP_001243779.1:p.Met6794Thr
NP_001254479.2:p.Met7111Thr
NP_596869.4:p.Met5867Thr
LRG_391:g.111876T>C
NC_000002.11:g.179588654A>G

Protein change:

M5867T

Links:

dbSNP: rs374408615

NCBI 1000 Genomes Browser:

rs374408615

Molecular consequence:

NM_003319.4:c.13282+14155T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+14155T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+14155T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.20381T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.21332T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.17600T>C - 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
SCV000270986	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 12, 2015)	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

SCV000270986

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 12, 2015)

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	not provided	1	1	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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000270986.3

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

Description

p.Met5867Thr in exon 70 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, nine mammals have a Threonine (Thr) at this position. It has also been iden tified in 2/66616 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org/; dbSNP rs374408615).

#	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

Last Updated: Sep 29, 2024

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