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NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2024
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:
RCV003236889.2

Allele description [Variation Report for NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)]

NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)

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_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)
HGVS:
  • NC_000002.12:g.178527119T>A
  • NG_011618.3:g.308684A>T
  • NG_051363.1:g.9293T>A
  • NM_001256850.1:c.102946A>T
  • NM_001267550.2:c.107869A>TMANE SELECT
  • NM_003319.4:c.80674A>T
  • NM_133378.4:c.100165A>T
  • NM_133432.3:c.81049A>T
  • NM_133437.4:c.81250A>T
  • NP_001243779.1:p.Ile34316Phe
  • NP_001254479.2:p.Ile35957Phe
  • NP_003310.4:p.Ile26892Phe
  • NP_596869.4:p.Ile33389Phe
  • NP_597676.3:p.Ile27017Phe
  • NP_597681.4:p.Ile27084Phe
  • LRG_391:g.308684A>T
  • NC_000002.11:g.179391846T>A
  • NM_001267550.1:c.107869A>T
Protein change:
I26892F
Links:
dbSNP: rs950902715
NCBI 1000 Genomes Browser:
rs950902715
Molecular consequence:
  • NM_001256850.1:c.102946A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.107869A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.80674A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.100165A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.81049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.81250A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003935725GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Aug 26, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003935725.2

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

Description

Identified in a patient with Intra-Hisian Wenckebach-type AV-block following surgical repair of conotruncal VSD; this patient harbored additional cardiogenetic variants (PMID: 37938799); Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 37938799)

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

Last Updated: Oct 8, 2024