NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) AND none provided

Clinical significance:Likely benign (Last evaluated: Aug 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001287315.1

Allele description [Variation Report for NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)]

NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)

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.57683G>A (p.Arg19228His)
Other names:
p.R17587H:CGC>CAC
HGVS:
  • NC_000002.12:g.178595671C>T
  • NG_011618.3:g.240132G>A
  • NG_051363.1:g.77845C>T
  • NM_001256850.1:c.52760G>A
  • NM_001267550.2:c.57683G>AMANE SELECT
  • NM_003319.4:c.30488G>A
  • NM_133378.4:c.49979G>A
  • NM_133432.3:c.30863G>A
  • NM_133437.4:c.31064G>A
  • NP_001243779.1:p.Arg17587His
  • NP_001254479.2:p.Arg19228His
  • NP_003310.4:p.Arg10163His
  • NP_596869.4:p.Arg16660His
  • NP_596869.4:p.Arg16660His
  • NP_597676.3:p.Arg10288His
  • NP_597681.4:p.Arg10355His
  • LRG_391t1:c.57683G>A
  • LRG_391:g.240132G>A
  • NC_000002.11:g.179460398C>T
  • NM_001267550.1:c.57683G>A
  • NM_133379.3:c.*149914G>A
  • c.49979G>A
Protein change:
R10163H
Links:
dbSNP: rs114711705
NCBI 1000 Genomes Browser:
rs114711705
Molecular consequence:
  • NM_001256850.1:c.52760G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.57683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.30488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.49979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.30863G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.31064G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001473990ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Aug 2, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001473990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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