NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 29, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000726232.6

Allele description [Variation Report for NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)]

NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)

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.96684C>T (p.Tyr32228=)
Other names:
p.Y30587Y:TAC>TAT
HGVS:
  • NC_000002.12:g.178543289G>A
  • NG_011618.3:g.292514C>T
  • NG_051363.1:g.25463G>A
  • NM_001256850.1:c.91761C>T
  • NM_001256850.1:c.91761C>T
  • NM_001267550.2:c.96684C>TMANE SELECT
  • NM_001267550.2:c.96684C>TMANE SELECT
  • NM_003319.4:c.69489C>T
  • NM_133378.4:c.88980C>T
  • NM_133378.4:c.88980C>T
  • NM_133432.3:c.69864C>T
  • NM_133437.4:c.70065C>T
  • NP_001243779.1:p.Tyr30587=
  • NP_001243779.1:p.Tyr30587=
  • NP_001254479.2:p.Tyr32228=
  • NP_001254479.2:p.Tyr32228=
  • NP_003310.4:p.Tyr23163=
  • NP_596869.4:p.Tyr29660=
  • NP_596869.4:p.Tyr29660=
  • NP_597676.3:p.Tyr23288=
  • NP_597681.4:p.Tyr23355=
  • LRG_391:g.292514C>T
  • NC_000002.11:g.179408016G>A
  • NC_000002.11:g.179408016G>A
  • NM_133379.3:c.*202296C>T
  • p.Tyr29660Tyr
Links:
dbSNP: rs368423941
NCBI 1000 Genomes Browser:
rs368423941
Molecular consequence:
  • NM_001256850.1:c.91761C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.96684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.69489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.88980C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.69864C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.70065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000701308EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 29, 2017)
germlineclinical testing

Citation Link,

SCV001152632CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2017)
germlineclinical testing

Citation Link,

SCV001956624Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701308.2

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152632.7

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001956624.1

#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 20, 2021

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