NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 20, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000728768.2

Allele description [Variation Report for NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)]

NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
HGVS:
  • NC_000002.12:g.178731746C>T
  • NG_011618.3:g.104057G>A
  • NM_001256850.1:c.16178G>A
  • NM_001267550.2:c.17129G>AMANE SELECT
  • NM_003319.4:c.13282+6336G>A
  • NM_133378.4:c.13397G>A
  • NM_133432.3:c.13657+6336G>A
  • NM_133437.4:c.13858+6336G>A
  • NP_001243779.1:p.Arg5393Gln
  • NP_001254479.2:p.Arg5710Gln
  • NP_596869.4:p.Arg4466Gln
  • LRG_391:g.104057G>A
  • NC_000002.11:g.179596473C>T
Protein change:
R4466Q
Links:
dbSNP: rs200018866
NCBI 1000 Genomes Browser:
rs200018866
Molecular consequence:
  • NM_003319.4:c.13282+6336G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+6336G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+6336G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.16178G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.17129G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.13397G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000729096GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 20, 2019)
germlineclinical testing

Citation Link,

SCV000856381EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 17, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000729096.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000856381.1

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

Last Updated: Nov 27, 2021

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