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NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 27, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000381416.8

Allele description [Variation Report for NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)]

NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)

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.84188G>A (p.Arg28063His)
HGVS:
  • NC_000002.12:g.178561944C>T
  • NG_011618.3:g.273859G>A
  • NG_051363.1:g.44118C>T
  • NM_001256850.1:c.79265G>A
  • NM_001267550.2:c.84188G>AMANE SELECT
  • NM_003319.4:c.56993G>A
  • NM_133378.4:c.76484G>A
  • NM_133432.3:c.57368G>A
  • NM_133437.4:c.57569G>A
  • NP_001243779.1:p.Arg26422His
  • NP_001254479.2:p.Arg28063His
  • NP_003310.4:p.Arg18998His
  • NP_596869.4:p.Arg25495His
  • NP_597676.3:p.Arg19123His
  • NP_597681.4:p.Arg19190His
  • LRG_391:g.273859G>A
  • NC_000002.11:g.179426671C>T
Protein change:
R18998H
Links:
dbSNP: rs570847832
NCBI 1000 Genomes Browser:
rs570847832
Molecular consequence:
  • NM_001256850.1:c.79265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.84188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.56993G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.76484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.57368G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.57569G>A - 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
SCV000343899Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Jul 14, 2016)
germlineclinical testing

Citation Link,

SCV001756182GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 27, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343899.4

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

From GeneDx, SCV001756182.1

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

Last Updated: Sep 29, 2024