U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
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:
RCV001358691.3

Allele description [Variation Report for NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)]

NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)

Genes:
TTN:titin [Gene - OMIM - HGNC]
LOC101927055:uncharacterized LOC101927055 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)
HGVS:
  • NC_000002.12:g.178778997T>C
  • NG_011618.3:g.56806A>G
  • NM_001256850.1:c.4085A>G
  • NM_001267550.2:c.4085A>GMANE SELECT
  • NM_003319.4:c.3947A>G
  • NM_133378.4:c.4085A>G
  • NM_133379.5:c.4085A>G
  • NM_133432.3:c.3947A>G
  • NM_133437.4:c.3947A>G
  • NP_001243779.1:p.Tyr1362Cys
  • NP_001254479.2:p.Tyr1362Cys
  • NP_003310.4:p.Tyr1316Cys
  • NP_596869.4:p.Tyr1362Cys
  • NP_596870.2:p.Tyr1362Cys
  • NP_597676.3:p.Tyr1316Cys
  • NP_597681.4:p.Tyr1316Cys
  • LRG_391t1:c.4085A>G
  • LRG_391:g.56806A>G
  • NC_000002.11:g.179643724T>C
Protein change:
Y1316C
Links:
dbSNP: rs965997128
NCBI 1000 Genomes Browser:
rs965997128
Molecular consequence:
  • NM_001256850.1:c.4085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.4085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.3947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.4085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.4085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.3947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.3947A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001554502Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancede novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, et al.

Eur J Hum Genet. 2022 May;30(5):567-576. doi: 10.1038/s41431-021-00998-4. Epub 2021 Nov 15.

PubMed [citation]
PMID:
34782754
PMCID:
PMC9091203

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001554502.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024