NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000726470.3

Allele description [Variation Report for NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)]

NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)

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.68195C>T (p.Ser22732Leu)
HGVS:
  • NC_000002.12:g.178578835G>A
  • NG_011618.3:g.256968C>T
  • NG_051363.1:g.61009G>A
  • NM_001256850.1:c.63272C>T
  • NM_001267550.2:c.68195C>TMANE SELECT
  • NM_003319.4:c.41000C>T
  • NM_133378.4:c.60491C>T
  • NM_133432.3:c.41375C>T
  • NM_133437.4:c.41576C>T
  • NP_001243779.1:p.Ser21091Leu
  • NP_001254479.2:p.Ser22732Leu
  • NP_003310.4:p.Ser13667Leu
  • NP_596869.4:p.Ser20164Leu
  • NP_597676.3:p.Ser13792Leu
  • NP_597681.4:p.Ser13859Leu
  • LRG_391:g.256968C>T
  • NC_000002.11:g.179443562G>A
Protein change:
S13667L
Links:
dbSNP: rs727505352
NCBI 1000 Genomes Browser:
rs727505352
Molecular consequence:
  • NM_001256850.1:c.63272C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.68195C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.41000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.60491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.41375C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.41576C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000344909EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Sep 1, 2016)
germlineclinical testing

Citation Link,

SCV001797820Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001954067Human 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 providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000344909.4

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797820.1

#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, SCV001954067.1

#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: Oct 8, 2021

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