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NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2023
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:
RCV004719763.1

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)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005325971GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 29, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV005325971.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Located in a region of TTN in which the majority of pathogenic variants have been reported in association with autosomal recessive titinopathies (Fernandez-Marmiesse et al., 2017; Chervinsky et al., 2018; Bryen, et al., 2020; Savarese et al., 2020); Identified in patients with congenital myopathy who have additional TTN variants (Natera-de Benito et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35628876, 32778822, 28040389, 29575618, 31660661, 33333461)

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

Last Updated: Apr 20, 2025