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NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 18, 2018
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:
RCV000658363.1

Allele description [Variation Report for NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs)]

NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs)
HGVS:
  • NC_000002.12:g.178722091TA[1]
  • NG_011618.3:g.113709TA[1]
  • NM_001256850.1:c.21620_21621del
  • NM_001267550.2:c.22571_22572delMANE SELECT
  • NM_003319.4:c.13282+15990_13282+15991del
  • NM_133378.4:c.18839_18840del
  • NM_133432.3:c.13657+15990_13657+15991del
  • NM_133437.4:c.13858+15990_13858+15991del
  • NP_001243779.1:p.Ile7207fs
  • NP_001254479.2:p.Ile7524fs
  • NP_596869.4:p.Ile6280fs
  • LRG_391:g.113709TA[1]
  • NC_000002.11:g.179586818TA[1]
  • NM_001256850.1:c.21620_21621delTA
Protein change:
I6280fs
Links:
dbSNP: rs1553909995
NCBI 1000 Genomes Browser:
rs1553909995
Molecular consequence:
  • NM_001256850.1:c.21620_21621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.22571_22572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.18839_18840del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.13282+15990_13282+15991del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+15990_13657+15991del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+15990_13858+15991del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000780135GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 18, 2018) 		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, SCV000780135.1

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

Description

The c.21620_21621delTA variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.21620_21621delTA variant causes a frameshift starting with codon Isoleucine 7207, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Ile7207ArgfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.21620_21621delTA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.21620_21621delTA as a likely pathogenic variant.

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

Last Updated: Nov 5, 2022