NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: May 30, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000250139.1

Allele description [Variation Report for NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)]

NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)

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.53012C>T (p.Ala17671Val)
HGVS:
  • NC_000002.12:g.178607676G>A
  • NG_011618.3:g.228127C>T
  • NG_051363.1:g.89850G>A
  • NM_001256850.1:c.48089C>T
  • NM_001267550.2:c.53012C>TMANE SELECT
  • NM_003319.4:c.25817C>T
  • NM_133378.4:c.45308C>T
  • NM_133432.3:c.26192C>T
  • NM_133437.4:c.26393C>T
  • NP_001243779.1:p.Ala16030Val
  • NP_001254479.2:p.Ala17671Val
  • NP_003310.4:p.Ala8606Val
  • NP_596869.4:p.Ala15103Val
  • NP_597676.3:p.Ala8731Val
  • NP_597681.4:p.Ala8798Val
  • LRG_391:g.228127C>T
  • NC_000002.11:g.179472403G>A
Protein change:
A15103V
Links:
dbSNP: rs549478203
NCBI 1000 Genomes Browser:
rs549478203
Molecular consequence:
  • NM_001256850.1:c.48089C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.53012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.25817C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.45308C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.26192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.26393C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000318713Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 30, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318713.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

There is insufficient or conflicting evidence for classification of this alteration.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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