NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000292460.4

Allele description [Variation Report for NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)]

NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)

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.93940G>A (p.Gly31314Ser)
HGVS:
  • NC_000002.12:g.178547686C>T
  • NG_011618.3:g.288117G>A
  • NG_051363.1:g.29860C>T
  • NM_001256850.1:c.89017G>A
  • NM_001267550.2:c.93940G>AMANE SELECT
  • NM_003319.4:c.66745G>A
  • NM_133378.4:c.86236G>A
  • NM_133432.3:c.67120G>A
  • NM_133437.4:c.67321G>A
  • NP_001243779.1:p.Gly29673Ser
  • NP_001254479.2:p.Gly31314Ser
  • NP_003310.4:p.Gly22249Ser
  • NP_596869.4:p.Gly28746Ser
  • NP_597676.3:p.Gly22374Ser
  • NP_597681.4:p.Gly22441Ser
  • LRG_391:g.288117G>A
  • NC_000002.11:g.179412413C>T
Protein change:
G22249S
Links:
dbSNP: rs368608059
NCBI 1000 Genomes Browser:
rs368608059
Molecular consequence:
  • NM_001256850.1:c.89017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.93940G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.66745G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.86236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.67120G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.67321G>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
SCV000335851EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 16, 2015)
germlineclinical testing

Citation Link,

SCV001931156Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001958891Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000335851.3

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931156.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001958891.1

#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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