NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(1) (Last evaluated: Apr 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000728842.6

Allele description [Variation Report for NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)]

NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)

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.52317A>G (p.Lys17439=)
HGVS:
  • NC_000002.12:g.178608694T>C
  • NG_011618.3:g.227109A>G
  • NG_051363.1:g.90868T>C
  • NM_001256850.1:c.47394A>G
  • NM_001267550.2:c.52317A>GMANE SELECT
  • NM_003319.4:c.25122A>G
  • NM_133378.4:c.44613A>G
  • NM_133432.3:c.25497A>G
  • NM_133437.4:c.25698A>G
  • NP_001243779.1:p.Lys15798=
  • NP_001254479.2:p.Lys17439=
  • NP_003310.4:p.Lys8374=
  • NP_596869.4:p.Lys14871=
  • NP_597676.3:p.Lys8499=
  • NP_597681.4:p.Lys8566=
  • LRG_391:g.227109A>G
  • NC_000002.11:g.179473421T>C
Links:
dbSNP: rs370450339
NCBI 1000 Genomes Browser:
rs370450339
Molecular consequence:
  • NM_001256850.1:c.47394A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.52317A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.25122A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.44613A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.25497A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.25698A>G - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000716380GeneDxcriteria provided, single submitter
Likely benign
(Aug 15, 2019)
germlineclinical testing

Citation Link,

SCV000856460EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 22, 2017)
germlineclinical testing

Citation Link,

SCV001747988CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Apr 1, 2021)
germlineclinical testing

Citation Link,

SCV001927579Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000716380.2

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000856460.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001747988.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927579.1

#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: Nov 27, 2021

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