U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 16, 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:
RCV000251022.9

Allele description [Variation Report for NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)]

NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)

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.88187T>C (p.Ile29396Thr)
Other names:
p.I27755T:ATC>ACC
HGVS:
  • NC_000002.12:g.178556967A>G
  • NG_011618.3:g.278836T>C
  • NG_051363.1:g.39141A>G
  • NM_001256850.1:c.83264T>C
  • NM_001267550.2:c.88187T>CMANE SELECT
  • NM_003319.4:c.60992T>C
  • NM_133378.4:c.80483T>C
  • NM_133432.3:c.61367T>C
  • NM_133437.4:c.61568T>C
  • NP_001243779.1:p.Ile27755Thr
  • NP_001254479.1:p.Ile29396Thr
  • NP_001254479.2:p.Ile29396Thr
  • NP_003310.4:p.Ile20331Thr
  • NP_596869.4:p.Ile26828Thr
  • NP_597676.3:p.Ile20456Thr
  • NP_597681.4:p.Ile20523Thr
  • LRG_391t1:c.88187T>C
  • LRG_391:g.278836T>C
  • LRG_391p1:p.Ile29396Thr
  • NC_000002.11:g.179421694A>G
  • NM_001267550.1:c.88187T>C
  • NM_001267550.2:c.88187T>C
  • NM_133379.3:c.*188618T>C
  • c.80483T>C
Protein change:
I20331T
Links:
dbSNP: rs9808377
NCBI 1000 Genomes Browser:
rs9808377
Molecular consequence:
  • NM_001256850.1:c.83264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.88187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.60992T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.80483T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.61367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.61568T>C - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000317654Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Benign
(Jan 16, 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, SCV000317654.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024