NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000593097.2

Allele description [Variation Report for NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)]

NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
HGVS:
  • NC_000002.12:g.178693930G>A
  • NG_011618.3:g.141873C>T
  • NM_001256850.1:c.30554C>T
  • NM_001267550.2:c.31505C>TMANE SELECT
  • NM_003319.4:c.13282+44152C>T
  • NM_133378.4:c.27773C>T
  • NM_133432.3:c.13657+44152C>T
  • NM_133437.4:c.13858+44152C>T
  • NP_001243779.1:p.Ser10185Leu
  • NP_001254479.2:p.Ser10502Leu
  • NP_596869.4:p.Ser9258Leu
  • LRG_391:g.141873C>T
  • NC_000002.11:g.179558657G>A
Protein change:
S10185L
Links:
dbSNP: rs768632287
NCBI 1000 Genomes Browser:
rs768632287
Molecular consequence:
  • NM_003319.4:c.13282+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.30554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.31505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.27773C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000701098EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 28, 2017)
germlineclinical testing

Citation Link,

SCV000968573GeneDxcriteria provided, single submitter
Likely benign
(May 7, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701098.2

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

From GeneDx, SCV000968573.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 27, 2021

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