NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) AND Cardiovascular phenotype

Clinical significance:Benign (Last evaluated: Jan 22, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000252704.1

Allele description [Variation Report for NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)]

NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
HGVS:
  • NC_000002.12:g.178735548A>G
  • NG_011618.3:g.100255T>C
  • NM_001256850.1:c.13947T>C
  • NM_001267550.2:c.14898T>CMANE SELECT
  • NM_003319.4:c.13282+2534T>C
  • NM_133378.4:c.11166T>C
  • NM_133432.3:c.13657+2534T>C
  • NM_133437.4:c.13858+2534T>C
  • NP_001243779.1:p.Ala4649=
  • NP_001254479.2:p.Ala4966=
  • NP_596869.4:p.Ala3722=
  • LRG_391:g.100255T>C
  • NC_000002.11:g.179600275A>G
Links:
dbSNP: rs370105333
NCBI 1000 Genomes Browser:
rs370105333
Molecular consequence:
  • NM_003319.4:c.13282+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.13947T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.14898T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.11166T>C - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000318204Ambry Geneticscriteria provided, single submitter
Benign
(Jan 22, 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, SCV000318204.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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