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NM_001256850.1(TTN):c.72514C>T (p.Gln24172Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 2014
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:
RCV000184263.1

Allele description

NM_001256850.1(TTN):c.72514C>T (p.Gln24172Ter)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001256850.1(TTN):c.72514C>T (p.Gln24172Ter)
Other names:
p.Q24172*:CAA>TAA
HGVS:
  • NC_000002.12:g.178568695G>A
  • NG_011618.3:g.267108C>T
  • NM_001256850.1:c.72514C>T
  • NM_001267550.2:c.77437C>T
  • NM_133379.4:c.*265+176625C>T
  • NP_001243779.1:p.Gln24172Ter
  • NP_001254479.2:p.Gln25813Ter
  • LRG_391t2:c.*265+176625C>T
  • LRG_391:g.267108C>T
  • NC_000002.11:g.179433422G>A
  • NM_133379.3:c.*176890C>T
Protein change:
Q24172*
Links:
dbSNP: rs794729287
NCBI 1000 Genomes Browser:
rs794729287
Molecular consequence:
  • NM_001267550.2:c.77437C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236886GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 8, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236886.9

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

Description

p.Gln24172Stop (CAA>TAA): c.72514 C>T in exon 276 of the TTN gene (NM_001256850.1). The Q24172X mutation in the TTN gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Q24172X is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012). However, Q24172X is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). In summary, Q24172X in the TTN gene is interpreted as a disease-causing mutation. The variant is found in DCM-CRDM panel(s).

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

Last Updated: Mar 31, 2019