NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 3, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000274809.3

Allele description [Variation Report for NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)]

NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)

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.106442A>G (p.Lys35481Arg)
HGVS:
  • NC_000002.12:g.178530049T>C
  • NG_011618.3:g.305754A>G
  • NG_051363.1:g.12223T>C
  • NM_001256850.1:c.101519A>G
  • NM_001267550.2:c.106442A>GMANE SELECT
  • NM_003319.4:c.79247A>G
  • NM_133378.4:c.98738A>G
  • NM_133432.3:c.79622A>G
  • NM_133437.4:c.79823A>G
  • NP_001243779.1:p.Lys33840Arg
  • NP_001254479.2:p.Lys35481Arg
  • NP_003310.4:p.Lys26416Arg
  • NP_596869.4:p.Lys32913Arg
  • NP_597676.3:p.Lys26541Arg
  • NP_597681.4:p.Lys26608Arg
  • LRG_391:g.305754A>G
  • NC_000002.11:g.179394776T>C
Protein change:
K26416R
Links:
dbSNP: rs200716018
NCBI 1000 Genomes Browser:
rs200716018
Molecular consequence:
  • NM_001256850.1:c.101519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.106442A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.79247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.98738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.79622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.79823A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000336443EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 11, 2017)
germlineclinical testing

Citation Link,

SCV000978158GeneDxcriteria provided, single submitter
Likely benign
(May 3, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000336443.4

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

From GeneDx, SCV000978158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 31983221)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 26, 2021

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