NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000725703.1

Allele description [Variation Report for NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)]

NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
HGVS:
  • NC_000002.12:g.178630922C>T
  • NG_011618.3:g.204881G>A
  • NM_001256850.1:c.39113G>A
  • NM_001267550.2:c.44036G>AMANE SELECT
  • NM_003319.4:c.16841G>A
  • NM_133378.4:c.36332G>A
  • NM_133432.3:c.17216G>A
  • NM_133437.4:c.17417G>A
  • NP_001243779.1:p.Arg13038Gln
  • NP_001254479.2:p.Arg14679Gln
  • NP_003310.4:p.Arg5614Gln
  • NP_596869.4:p.Arg12111Gln
  • NP_597676.3:p.Arg5739Gln
  • NP_597681.4:p.Arg5806Gln
  • LRG_391:g.204881G>A
  • NC_000002.11:g.179495649C>T
Protein change:
R12111Q
Links:
dbSNP: rs369709751
NCBI 1000 Genomes Browser:
rs369709751
Molecular consequence:
  • NM_001256850.1:c.39113G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.44036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.16841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.36332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.17216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.17417G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000338746EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Sep 18, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338746.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Nov 27, 2021

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