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NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 27, 2019
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:
RCV002424456.2

Allele description [Variation Report for NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)]

NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)

Genes:
LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
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.48850G>A (p.Gly16284Arg)
HGVS:
  • NC_000002.12:g.178614664C>T
  • NG_011618.3:g.221139G>A
  • NG_051363.1:g.96838C>T
  • NM_001256850.1:c.43927G>A
  • NM_001267550.2:c.48850G>AMANE SELECT
  • NM_003319.4:c.21655G>A
  • NM_133378.4:c.41146G>A
  • NM_133432.3:c.22030G>A
  • NM_133437.4:c.22231G>A
  • NP_001243779.1:p.Gly14643Arg
  • NP_001254479.2:p.Gly16284Arg
  • NP_003310.4:p.Gly7219Arg
  • NP_596869.4:p.Gly13716Arg
  • NP_597676.3:p.Gly7344Arg
  • NP_597681.4:p.Gly7411Arg
  • LRG_391:g.221139G>A
  • NC_000002.11:g.179479391C>T
  • NM_003319.4:c.21655G>A
  • NR_038271.1:n.1412C>T
Protein change:
G13716R
Links:
dbSNP: rs368527534
NCBI 1000 Genomes Browser:
rs368527534
Molecular consequence:
  • NM_001256850.1:c.43927G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.48850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.21655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.41146G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.22030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.22231G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038271.1:n.1412C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002727367Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Nov 27, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002727367.2

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

Description

The p.G7219R variant (also known as c.21655G>A), located in coding exon 88 of the TTN gene, results from a G to A substitution at nucleotide position 21655. The glycine at codon 7219 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024