NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000594052.3

Allele description [Variation Report for NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)]

NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)

Genes:
TTN:titin [Gene - OMIM - HGNC]
LOC101927055:uncharacterized LOC101927055 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
HGVS:
  • NC_000002.12:g.178777893G>A
  • NG_011618.3:g.57910C>T
  • NM_001256850.1:c.4291C>T
  • NM_001267550.2:c.4291C>TMANE SELECT
  • NM_003319.4:c.4153C>T
  • NM_133378.4:c.4291C>T
  • NM_133379.5:c.4291C>T
  • NM_133432.3:c.4153C>T
  • NM_133437.4:c.4153C>T
  • NP_001243779.1:p.Arg1431Trp
  • NP_001254479.2:p.Arg1431Trp
  • NP_003310.4:p.Arg1385Trp
  • NP_596869.4:p.Arg1431Trp
  • NP_596870.2:p.Arg1431Trp
  • NP_597676.3:p.Arg1385Trp
  • NP_597681.4:p.Arg1385Trp
  • LRG_391:g.57910C>T
  • NC_000002.11:g.179642620G>A
  • NR_120594.1:n.968G>A
Protein change:
R1385W
Links:
dbSNP: rs139636676
NCBI 1000 Genomes Browser:
rs139636676
Molecular consequence:
  • NM_001256850.1:c.4291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.4291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.4153C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.4291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.4291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.4153C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.4153C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120594.1:n.968G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000701124EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 5, 2017)
germlineclinical testing

Citation Link,

SCV000977664GeneDxcriteria provided, single submitter
Likely benign
(Feb 25, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701124.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000977664.2

#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: Oct 8, 2021

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