NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Dec 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621332.2

Allele description [Variation Report for NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)]

NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)

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.72587G>A (p.Arg24196His)
Other names:
p.R22555H:CGT>CAT
HGVS:
  • NC_000002.12:g.178573545C>T
  • NG_011618.3:g.262258G>A
  • NG_051363.1:g.55719C>T
  • NM_001256850.1:c.67664G>A
  • NM_001267550.2:c.72587G>AMANE SELECT
  • NM_003319.4:c.45392G>A
  • NM_133378.4:c.64883G>A
  • NM_133432.3:c.45767G>A
  • NM_133437.4:c.45968G>A
  • NP_001243779.1:p.Arg22555His
  • NP_001254479.2:p.Arg24196His
  • NP_003310.4:p.Arg15131His
  • NP_596869.4:p.Arg21628His
  • NP_597676.3:p.Arg15256His
  • NP_597681.4:p.Arg15323His
  • LRG_391t1:c.72587G>A
  • LRG_391:g.262258G>A
  • NC_000002.11:g.179438272C>T
  • NM_001267550.1:c.72587G>A
Protein change:
R15131H
Links:
dbSNP: rs200317412
NCBI 1000 Genomes Browser:
rs200317412
Molecular consequence:
  • NM_001256850.1:c.67664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.72587G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.45392G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.64883G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.45767G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.45968G>A - 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
SCV000737211Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 4, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Details of each submission

From Ambry Genetics, SCV000737211.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Insufficient evidence

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

Last Updated: Jul 7, 2021

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