NM_001267550.2(TTN):c.11311+1872G>C AND Myopathy, myofibrillar, 9, with early respiratory failure

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 2022
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:: RCV003147944.1

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+1872G>C]

NM_001267550.2(TTN):c.11311+1872G>C

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.11311+1872G>C

HGVS:

NC_000002.12:g.178751252C>G
NG_011618.3:g.84551G>C
NM_001256850.1:c.10360+1872G>C
NM_001267550.2:c.11311+1872G>CMANE SELECT
NM_003319.4:c.10222+1872G>C
NM_133378.4:c.10360+1872G>C
NM_133379.5:c.11148G>C
NM_133432.3:c.10597+1872G>C
NM_133437.4:c.10798+1872G>C
NP_596870.2:p.Lys3716Asn
NP_596870.2:p.Lys3716Asn
LRG_391t2:c.11148G>C
LRG_391:g.84551G>C
LRG_391p2:p.Lys3716Asn
NC_000002.11:g.179615979C>G
NM_133379.4:c.11148G>C

Protein change:

K3716N

Molecular consequence:

NM_001256850.1:c.10360+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.11311+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.10222+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.10360+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.10597+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.10798+1872G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133379.5:c.11148G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
Synonyms:: EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003835840	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 8, 2022)	unknown	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

SCV003835840

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 8, 2022)

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	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

Details of each submission

From Baylor Genetics, SCV003835840.1

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine