NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Jul 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000727793.4

Allele description [Variation Report for NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)]

NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
Other names:
p.A5867T:GCA>ACA
HGVS:
  • NC_000002.12:g.178729703C>T
  • NG_011618.3:g.106100G>A
  • NM_001256850.1:c.17599G>A
  • NM_001267550.2:c.18550G>AMANE SELECT
  • NM_003319.4:c.13282+8379G>A
  • NM_133378.4:c.14818G>A
  • NM_133432.3:c.13657+8379G>A
  • NM_133437.4:c.13858+8379G>A
  • NP_001243779.1:p.Ala5867Thr
  • NP_001254479.2:p.Ala6184Thr
  • NP_596869.4:p.Ala4940Thr
  • LRG_391:g.106100G>A
  • NC_000002.11:g.179594430C>T
Protein change:
A4940T
Links:
dbSNP: rs72648947
NCBI 1000 Genomes Browser:
rs72648947
Molecular consequence:
  • NM_003319.4:c.13282+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8379G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.14818G>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
SCV000238254GeneDxcriteria provided, single submitter
Likely benign
(Jun 29, 2018)
germlineclinical testing

Citation Link,

SCV000855198EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 31, 2018)
germlineclinical testing

Citation Link,

SCV001153069CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000238254.9

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

Description

This variant is associated with the following publications: (PMID: 28135719)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000855198.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001153069.7

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

Last Updated: Nov 27, 2021

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