NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jul 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000724980.2

Allele description [Variation Report for NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)]

NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
HGVS:
  • NC_000002.12:g.178711983C>T
  • NG_011618.3:g.123820G>A
  • NM_001256850.1:c.26896G>A
  • NM_001267550.2:c.27847G>AMANE SELECT
  • NM_003319.4:c.13282+26099G>A
  • NM_133378.4:c.24115G>A
  • NM_133432.3:c.13657+26099G>A
  • NM_133437.4:c.13858+26099G>A
  • NP_001243779.1:p.Val8966Met
  • NP_001254479.2:p.Val9283Met
  • NP_596869.4:p.Val8039Met
  • LRG_391:g.123820G>A
  • NC_000002.11:g.179576710C>T
Protein change:
V8039M
Links:
dbSNP: rs727504515
NCBI 1000 Genomes Browser:
rs727504515
Molecular consequence:
  • NM_003319.4:c.13282+26099G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+26099G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+26099G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.26896G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.27847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.24115G>A - 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
SCV000332884EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 27, 2017)
germlineclinical testing

Citation Link,

SCV000719826GeneDxcriteria provided, single submitter
Likely benign
(Jul 12, 2018)
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, SCV000332884.4

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

From GeneDx, SCV000719826.2

#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: Sep 25, 2021

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