NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)]

NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)
  • NC_000002.12:g.178599637C>T
  • NG_011618.3:g.236166G>A
  • NG_051363.1:g.81811C>T
  • NM_001256850.1:c.51341G>A
  • NM_001267550.2:c.56264G>AMANE SELECT
  • NM_003319.4:c.29069G>A
  • NM_133378.4:c.48560G>A
  • NM_133432.3:c.29444G>A
  • NM_133437.4:c.29645G>A
  • NP_001243779.1:p.Arg17114His
  • NP_001254479.2:p.Arg18755His
  • NP_003310.4:p.Arg9690His
  • NP_596869.4:p.Arg16187His
  • NP_597676.3:p.Arg9815His
  • NP_597681.4:p.Arg9882His
  • LRG_391:g.236166G>A
  • NC_000002.11:g.179464364C>T
  • NR_038272.1:n.3612C>T
Protein change:
dbSNP: rs772767570
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001256850.1:c.51341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.56264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.29069G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.48560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.29444G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.29645G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.3612C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000983731GeneDxcriteria provided, single submitter
Likely benign
(Apr 6, 2018)
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, SCV000983731.1

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


This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 27, 2021

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