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NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000244493.1

Allele description [Variation Report for NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)]

NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)

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.87623A>T (p.Tyr29208Phe)
Other names:
p.Y27567F:TAC>TTC
HGVS:
  • NC_000002.12:g.178557731T>A
  • NG_011618.3:g.278072A>T
  • NG_051363.1:g.39905T>A
  • NM_001256850.1:c.82700A>T
  • NM_001267550.2:c.87623A>TMANE SELECT
  • NM_003319.4:c.60428A>T
  • NM_133378.4:c.79919A>T
  • NM_133432.3:c.60803A>T
  • NM_133437.4:c.61004A>T
  • NP_001243779.1:p.Tyr27567Phe
  • NP_001254479.2:p.Tyr29208Phe
  • NP_003310.4:p.Tyr20143Phe
  • NP_596869.4:p.Tyr26640Phe
  • NP_597676.3:p.Tyr20268Phe
  • NP_597681.4:p.Tyr20335Phe
  • LRG_391:g.278072A>T
  • NC_000002.11:g.179422458T>A
  • c.79919A>T
Protein change:
Y20143F
Links:
dbSNP: rs201831707
NCBI 1000 Genomes Browser:
rs201831707
Molecular consequence:
  • NM_001256850.1:c.82700A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.87623A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.60428A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.79919A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.60803A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.61004A>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
SCV000318374Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Uncertain significance
(Mar 18, 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, SCV000318374.5

#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: Sep 29, 2024