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NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Sep 10, 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:
RCV001132027.14

Allele description [Variation Report for NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)]

NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)

Genes:
LOC126806429:BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
Other names:
p.M6399K:ATG>AAG
HGVS:
  • NC_000002.12:g.178727218A>T
  • NG_011618.3:g.108585T>A
  • NG_082749.1:g.653A>T
  • NM_001256850.1:c.19196T>A
  • NM_001267550.2:c.20147T>AMANE SELECT
  • NM_003319.4:c.13282+10864T>A
  • NM_133378.4:c.16415T>A
  • NM_133432.3:c.13657+10864T>A
  • NM_133437.4:c.13858+10864T>A
  • NP_001243779.1:p.Met6399Lys
  • NP_001254479.1:p.Met6716Lys
  • NP_001254479.2:p.Met6716Lys
  • NP_596869.4:p.Met5472Lys
  • LRG_391t1:c.20147T>A
  • LRG_391:g.108585T>A
  • LRG_391p1:p.Met6716Lys
  • NC_000002.11:g.179591945A>T
  • NM_001267550.1:c.20147T>A
  • NM_001267550.1:c.20147T>A
  • NM_133379.3:c.*18367T>A
  • c.16415T>A
Protein change:
M5472K
Links:
dbSNP: rs28626194
NCBI 1000 Genomes Browser:
rs28626194
Molecular consequence:
  • NM_003319.4:c.13282+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.19196T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.20147T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.16415T>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001291678Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Jan 13, 2018) 		germlineclinical testing

Citation Link,

SCV002099924Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Illumina Laboratory Services, Illumina, SCV001291678.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV002099924.1

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

Last Updated: Nov 24, 2024