NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Dec 17, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000246691.1

Allele description [Variation Report for NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met)]

NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met)

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.90246A>G (p.Ile30082Met)
HGVS:
  • NC_000002.12:g.178552654T>C
  • NG_011618.3:g.283149A>G
  • NG_051363.1:g.34828T>C
  • NM_001256850.1:c.85323A>G
  • NM_001267550.2:c.90246A>GMANE SELECT
  • NM_003319.4:c.63051A>G
  • NM_133378.4:c.82542A>G
  • NM_133432.3:c.63426A>G
  • NM_133437.4:c.63627A>G
  • NP_001243779.1:p.Ile28441Met
  • NP_001254479.2:p.Ile30082Met
  • NP_003310.4:p.Ile21017Met
  • NP_596869.4:p.Ile27514Met
  • NP_597676.3:p.Ile21142Met
  • NP_597681.4:p.Ile21209Met
  • LRG_391:g.283149A>G
  • NC_000002.11:g.179417381T>C
  • NM_133378.3:c.82542A>G
Protein change:
I21017M
Links:
dbSNP: rs886038812
NCBI 1000 Genomes Browser:
rs886038812
Molecular consequence:
  • NM_001256850.1:c.85323A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.90246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.63051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.82542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.63426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.63627A>G - 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
SCV000318074Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 17, 2012)
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, SCV000318074.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely 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: Nov 27, 2021

Support Center