NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(2) (Last evaluated: Oct 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000172660.7

Allele description [Variation Report for NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)]

NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)

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.55374C>G (p.Ser18458Arg)
Other names:
p.S16817R:AGC>AGG
HGVS:
  • NC_000002.12:g.178601716G>C
  • NG_011618.3:g.234087C>G
  • NG_051363.1:g.83890G>C
  • NM_001256850.1:c.50451C>G
  • NM_001267550.2:c.55374C>GMANE SELECT
  • NM_003319.4:c.28179C>G
  • NM_133378.4:c.47670C>G
  • NM_133432.3:c.28554C>G
  • NM_133437.4:c.28755C>G
  • NP_001243779.1:p.Ser16817Arg
  • NP_001254479.2:p.Ser18458Arg
  • NP_003310.4:p.Ser9393Arg
  • NP_596869.4:p.Ser15890Arg
  • NP_597676.3:p.Ser9518Arg
  • NP_597681.4:p.Ser9585Arg
  • LRG_391:g.234087C>G
  • NC_000002.11:g.179466443G>C
Protein change:
S15890R
Links:
dbSNP: rs200550947
NCBI 1000 Genomes Browser:
rs200550947
Molecular consequence:
  • NM_001256850.1:c.50451C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.55374C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.28179C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.47670C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.28554C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.28755C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054983Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeqcriteria provided, single submitter
Likely benign
(Jun 24, 2013)
unknownresearch

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

SCV000237316GeneDxcriteria provided, single submitter
Likely benign
(Oct 5, 2020)
germlineclinical testing

Citation Link,

SCV000333474EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 31, 2015)
germlineclinical testing

Citation Link,

SCV001152871CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2019)
germlineclinical testing

Citation Link

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details.

SCV000054983

Medical sequencing

SCV000054983

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown5not providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeq, SCV000054983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000237316.4

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

Description

This variant is associated with the following publications: (PMID: 23861362)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000333474.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152871.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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