NM_001267550.2(TTN):c.11311+2465C>G AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001171817.2

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+2465C>G]

NM_001267550.2(TTN):c.11311+2465C>G

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11311+2465C>G
Other names:
p.T3914R:ACA>AGA
HGVS:
  • NC_000002.12:g.178750659G>C
  • NG_011618.3:g.85144C>G
  • NM_001256850.1:c.10360+2465C>G
  • NM_001267550.2:c.11311+2465C>GMANE SELECT
  • NM_003319.4:c.10222+2465C>G
  • NM_133378.4:c.10360+2465C>G
  • NM_133379.5:c.11741C>G
  • NM_133432.3:c.10597+2465C>G
  • NM_133437.4:c.10798+2465C>G
  • NP_596870.2:p.Thr3914Arg
  • LRG_391:g.85144C>G
  • NC_000002.11:g.179615386G>C
  • NM_133379.3:c.11741C>G
  • c.11741C>G
Protein change:
T3914R
Links:
dbSNP: rs116593093
NCBI 1000 Genomes Browser:
rs116593093
Molecular consequence:
  • NM_001256850.1:c.10360+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.11741C>G - 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
SCV001334683CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Mar 1, 2020)
germlineclinical testing

Citation Link,

SCV001800033Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001334683.4

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800033.1

#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: Sep 6, 2021

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