NM_001267550.2(TTN):c.32554+5_32554+6del AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Feb 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000725811.5

Allele description [Variation Report for NM_001267550.2(TTN):c.32554+5_32554+6del]

NM_001267550.2(TTN):c.32554+5_32554+6del

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.32554+5_32554+6del
HGVS:
  • NC_000002.12:g.178684901_178684902TA[1]
  • NG_011618.3:g.150900_150901AT[1]
  • NM_001256850.1:c.31603+5_31603+6del
  • NM_001267550.2:c.32554+5_32554+6delMANE SELECT
  • NM_003319.4:c.13283-42584_13283-42583del
  • NM_133378.4:c.28822+5_28822+6del
  • NM_133432.3:c.13658-42584_13658-42583del
  • NM_133437.4:c.13859-42584_13859-42583del
  • LRG_391:g.150900_150901AT[1]
  • NC_000002.11:g.179549628_179549629TA[1]
  • NM_001256850.1:c.31603+5_31603+6delAT
  • NM_001267550.2:c.32554+5_32554+6delATMANE SELECT
Links:
dbSNP: rs771419718
NCBI 1000 Genomes Browser:
rs771419718
Molecular consequence:
  • NM_003319.4:c.13283-42584_13283-42583del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-42584_13658-42583del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-42584_13859-42583del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.31603+5_31603+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267550.2:c.32554+5_32554+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133378.4:c.28822+5_28822+6del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
10

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000701149EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 19, 2018)
germlineclinical testing

Citation Link,

SCV000730355GeneDxcriteria provided, single submitter
Likely benign
(Oct 21, 2020)
germlineclinical testing

Citation Link,

SCV001152985CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Feb 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlineunknown7not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701149.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

From GeneDx, SCV000730355.2

#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, SCV001152985.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 20, 2021

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