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NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 23, 2015
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:
RCV000621416.11

Allele description [Variation Report for NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)]

NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)

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.83740A>G (p.Thr27914Ala)
Other names:
p.T26273A:ACA>GCA
HGVS:
  • NC_000002.12:g.178562392T>C
  • NG_011618.3:g.273411A>G
  • NG_051363.1:g.44566T>C
  • NM_001256850.1:c.78817A>G
  • NM_001267550.2:c.83740A>GMANE SELECT
  • NM_003319.4:c.56545A>G
  • NM_133378.4:c.76036A>G
  • NM_133432.3:c.56920A>G
  • NM_133437.4:c.57121A>G
  • NP_001243779.1:p.Thr26273Ala
  • NP_001254479.1:p.Thr27914Ala
  • NP_001254479.2:p.Thr27914Ala
  • NP_003310.4:p.Thr18849Ala
  • NP_596869.4:p.Thr25346Ala
  • NP_596869.4:p.Thr25346Ala
  • NP_597676.3:p.Thr18974Ala
  • NP_597681.4:p.Thr19041Ala
  • LRG_391t1:c.83740A>G
  • LRG_391:g.273411A>G
  • LRG_391p1:p.Thr27914Ala
  • NC_000002.11:g.179427119T>C
  • NM_001267550.1:c.83740A>G
  • NM_133379.3:c.*183193A>G
Protein change:
T18849A
Links:
dbSNP: rs188370772
NCBI 1000 Genomes Browser:
rs188370772
Molecular consequence:
  • NM_001256850.1:c.78817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.83740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.56545A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.76036A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.56920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.57121A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000735190Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 23, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000735190.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025