NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000727832.2

Allele description [Variation Report for NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)]

NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

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.99581C>T (p.Pro33194Leu)
HGVS:
  • NC_000002.12:g.178537626G>A
  • NG_011618.3:g.298177C>T
  • NG_051363.1:g.19800G>A
  • NM_001256850.1:c.94658C>T
  • NM_001267550.2:c.99581C>TMANE SELECT
  • NM_003319.4:c.72386C>T
  • NM_133378.4:c.91877C>T
  • NM_133432.3:c.72761C>T
  • NM_133437.4:c.72962C>T
  • NP_001243779.1:p.Pro31553Leu
  • NP_001254479.2:p.Pro33194Leu
  • NP_003310.4:p.Pro24129Leu
  • NP_596869.4:p.Pro30626Leu
  • NP_597676.3:p.Pro24254Leu
  • NP_597681.4:p.Pro24321Leu
  • LRG_391:g.298177C>T
  • NC_000002.11:g.179402353G>A
  • NR_038272.1:n.582G>A
Protein change:
P24129L
Links:
dbSNP: rs140025425
NCBI 1000 Genomes Browser:
rs140025425
Molecular consequence:
  • NM_001256850.1:c.94658C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.99581C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.72386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.91877C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.72761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.72962C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.582G>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
SCV000855262EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 12, 2017)
germlineclinical testing

Citation Link,

SCV001423359GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000855262.1

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

From GenomeConnect, ClinGen, SCV001423359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 07-22-2019 by Lab or GTR ID Credit Valley Hospital Department of Laboratory Medicine. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Nov 27, 2021

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