NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Jun 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000619992.1

Allele description [Variation Report for NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)]

NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)

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.98893G>C (p.Asp32965His)
Other names:
p.D31324H:GAT>CAT
HGVS:
  • NC_000002.12:g.178539042C>G
  • NG_011618.3:g.296761G>C
  • NG_051363.1:g.21216C>G
  • NM_001256850.1:c.93970G>C
  • NM_001267550.2:c.98893G>CMANE SELECT
  • NM_003319.4:c.71698G>C
  • NM_133378.4:c.91189G>C
  • NM_133432.3:c.72073G>C
  • NM_133437.4:c.72274G>C
  • NP_001243779.1:p.Asp31324His
  • NP_001254479.2:p.Asp32965His
  • NP_003310.4:p.Asp23900His
  • NP_596869.4:p.Asp30397His
  • NP_597676.3:p.Asp24025His
  • NP_597681.4:p.Asp24092His
  • LRG_391:g.296761G>C
  • NC_000002.11:g.179403769C>G
  • NR_038272.1:n.992C>G
Protein change:
D23900H
Links:
dbSNP: rs186405108
NCBI 1000 Genomes Browser:
rs186405108
Molecular consequence:
  • NM_001256850.1:c.93970G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.98893G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.71698G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.91189G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.72073G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.72274G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.992C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737090Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 24, 2019)
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

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

Details of each submission

From Ambry Genetics, SCV000737090.3

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

Description

In silico models in agreement (benign);Other data supporting benign classification

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

Last Updated: Dec 4, 2021

Support Center