NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jun 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:
RCV001532426.3

Allele description [Variation Report for NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)]

NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)

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.52702A>G (p.Ile17568Val)
Other names:
p.I15927V:ATC>GTC
HGVS:
  • NC_000002.12:g.178608181T>C
  • NG_011618.3:g.227622A>G
  • NG_051363.1:g.90355T>C
  • NM_001256850.1:c.47779A>G
  • NM_001267550.2:c.52702A>GMANE SELECT
  • NM_003319.4:c.25507A>G
  • NM_133378.4:c.44998A>G
  • NM_133432.3:c.25882A>G
  • NM_133437.4:c.26083A>G
  • NP_001243779.1:p.Ile15927Val
  • NP_001254479.2:p.Ile17568Val
  • NP_003310.4:p.Ile8503Val
  • NP_596869.4:p.Ile15000Val
  • NP_597676.3:p.Ile8628Val
  • NP_597681.4:p.Ile8695Val
  • LRG_391:g.227622A>G
  • NC_000002.11:g.179472908T>C
  • NR_038271.1:n.697T>C
Protein change:
I15000V
Links:
dbSNP: rs377571654
NCBI 1000 Genomes Browser:
rs377571654
Molecular consequence:
  • NM_001256850.1:c.47779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.52702A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.25507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.44998A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.25882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.26083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038271.1:n.697T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000237281GeneDxcriteria provided, single submitter
Likely benign
(Apr 4, 2019)
germlineclinical testing

Citation Link,

SCV001747987CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2021)
germlineclinical testing

Citation Link,

SCV001979279Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001980218Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000237281.8

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001747987.1

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001979279.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001980218.1

#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

Support Center