NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Jul 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000620057.2

Allele description [Variation Report for NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)]

NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)

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.81527G>T (p.Arg27176Leu)
HGVS:
  • NC_000002.12:g.178564605C>A
  • NG_011618.3:g.271198G>T
  • NG_051363.1:g.46779C>A
  • NM_001256850.1:c.76604G>T
  • NM_001267550.2:c.81527G>TMANE SELECT
  • NM_003319.4:c.54332G>T
  • NM_133378.4:c.73823G>T
  • NM_133432.3:c.54707G>T
  • NM_133437.4:c.54908G>T
  • NP_001243779.1:p.Arg25535Leu
  • NP_001254479.2:p.Arg27176Leu
  • NP_003310.4:p.Arg18111Leu
  • NP_596869.4:p.Arg24608Leu
  • NP_597676.3:p.Arg18236Leu
  • NP_597681.4:p.Arg18303Leu
  • LRG_391:g.271198G>T
  • NC_000002.11:g.179429332C>A
Protein change:
R18111L
Links:
dbSNP: rs199726308
NCBI 1000 Genomes Browser:
rs199726308
Molecular consequence:
  • NM_001256850.1:c.76604G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.81527G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.54332G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.73823G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.54707G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.54908G>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
SCV000735822Ambry Geneticscriteria provided, single submitter
Likely benign
(Jul 14, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, et al.

Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043.

PubMed [citation]
PMID:
29590070
PMCID:
PMC5959723

Details of each submission

From Ambry Genetics, SCV000735822.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification

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

Last Updated: Oct 8, 2021

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