NM_001267550.2(TTN):c.*99dup AND not provided

Clinical significance:Benign (Last evaluated: Aug 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001613082.3

Allele description [Variation Report for NM_001267550.2(TTN):c.*99dup]

NM_001267550.2(TTN):c.*99dup

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.*99dup
HGVS:
  • NC_000002.12:g.178526920dup
  • NG_011618.3:g.308890dup
  • NG_051363.1:g.9094dup
  • NM_001256850.1:c.*99dup
  • NM_001267550.2:c.*99dupMANE SELECT
  • NM_003319.4:c.*99dup
  • NM_133378.4:c.*99dup
  • NM_133432.3:c.*99dup
  • NM_133437.4:c.*99dup
  • LRG_391:g.308890dup
  • NC_000002.11:g.179391647dup
  • NM_133378.4:c.*99dupA
Links:
dbSNP: rs11424072
NCBI 1000 Genomes Browser:
rs11424072
Molecular consequence:
  • NM_001256850.1:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001267550.2:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003319.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133378.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133432.3:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133437.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001834987GeneDxcriteria provided, single submitter
Benign
(Aug 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001834987.1

#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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