NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 16, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000517677.1

Allele description [Variation Report for NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)]

NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
HGVS:
  • NC_000002.12:g.178706629G>A
  • NG_011618.3:g.129174C>T
  • NM_001256850.1:c.28294C>T
  • NM_001267550.2:c.29245C>TMANE SELECT
  • NM_003319.4:c.13282+31453C>T
  • NM_133378.4:c.25513C>T
  • NM_133432.3:c.13657+31453C>T
  • NM_133437.4:c.13858+31453C>T
  • NP_001243779.1:p.Gln9432Ter
  • NP_001254479.2:p.Gln9749Ter
  • NP_596869.4:p.Gln8505Ter
  • LRG_391t1:c.29245C>T
  • LRG_391:g.129174C>T
  • NC_000002.11:g.179571356G>A
  • NM_001267550.1:c.29245C>T
  • p.Gln9749*
Protein change:
Q8505*
Links:
dbSNP: rs746721983
NCBI 1000 Genomes Browser:
rs746721983
Molecular consequence:
  • NM_003319.4:c.13282+31453C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+31453C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+31453C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.28294C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.29245C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133378.4:c.25513C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236820GeneDxcriteria provided, single submitter
Likely pathogenic
(Jan 16, 2019)
germlineclinical testing

Citation Link,

SCV000616050Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Aug 30, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000236820.3

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

Description

The Q9432X variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q9432X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q9432X as a likely pathogenic variant.

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

From Athena Diagnostics Inc, SCV000616050.1

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

Last Updated: May 27, 2021

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