NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Oct 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000592500.3

Allele description [Variation Report for NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)]

NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)

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.82732A>G (p.Lys27578Glu)
HGVS:
  • NC_000002.12:g.178563400T>C
  • NG_011618.3:g.272403A>G
  • NG_051363.1:g.45574T>C
  • NM_001256850.1:c.77809A>G
  • NM_001267550.2:c.82732A>GMANE SELECT
  • NM_003319.4:c.55537A>G
  • NM_133378.4:c.75028A>G
  • NM_133432.3:c.55912A>G
  • NM_133437.4:c.56113A>G
  • NP_001243779.1:p.Lys25937Glu
  • NP_001254479.2:p.Lys27578Glu
  • NP_003310.4:p.Lys18513Glu
  • NP_596869.4:p.Lys25010Glu
  • NP_597676.3:p.Lys18638Glu
  • NP_597681.4:p.Lys18705Glu
  • LRG_391:g.272403A>G
  • NC_000002.11:g.179428127T>C
Protein change:
K18513E
Links:
dbSNP: rs368850871
NCBI 1000 Genomes Browser:
rs368850871
Molecular consequence:
  • NM_001256850.1:c.77809A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.82732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.55537A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.75028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.55912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.56113A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000706005EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 30, 2017)
germlineclinical testing

Citation Link,

SCV001788207GeneDxcriteria provided, single submitter
Likely benign
(Oct 29, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000706005.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001788207.1

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

Description

Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 27, 2021

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