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NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) AND CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000203600.1

Allele description [Variation Report for NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)]

NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)
Other names:
NM_001267550.2(TTN):c.38661_38665del; p.Lys12887fs
HGVS:
  • NC_000002.12:g.178653470TTTCT[1]
  • NG_011618.3:g.182325GAAAA[1]
  • NM_001256850.1:c.34523-932_34523-928del
  • NM_001267550.1:c.38661_38665del
  • NM_001267550.2:c.38661_38665delMANE SELECT
  • NM_003319.4:c.13283-11156_13283-11152del
  • NM_133378.4:c.31742-932_31742-928del
  • NM_133432.3:c.13658-11156_13658-11152del
  • NM_133437.4:c.13859-11156_13859-11152del
  • NP_001254479.2:p.Lys12887fs
  • LRG_391t1:c.38661_38665del
  • LRG_391:g.182325GAAAA[1]
  • NC_000002.11:g.179518197TTTCT[1]
  • NM_001267550.2:c.38661_38665del
  • NM_001267550.2:c.38661_38665delGAAAAMANE SELECT
Protein change:
K12887fs
Links:
dbSNP: rs1553775212
NCBI 1000 Genomes Browser:
rs1553775212
Molecular consequence:
  • NM_001267550.2:c.38661_38665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256850.1:c.34523-932_34523-928del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-11156_13283-11152del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.31742-932_31742-928del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-11156_13658-11152del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-11156_13859-11152del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement
Identifiers:
MedGen: CN234897

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258980NeuroMeGen, Hospital Clinico Santiago de Compostela
no assertion criteria provided

(ACMG Guidelines, 2015)		Likely pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 NeuroMeGen, Hospital Clinico Santiago de Compostela, SCV000258980.2

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

Last Updated: Apr 20, 2025