U.S. flag

An official website of the United States government

NM_133379.5(TTN):c.15488G>A (p.Arg5163His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 2014
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:
RCV000185270.3

Allele description [Variation Report for NM_133379.5(TTN):c.15488G>A (p.Arg5163His)]

NM_133379.5(TTN):c.15488G>A (p.Arg5163His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_133379.5(TTN):c.15488G>A (p.Arg5163His)
Other names:
p.R5163H:CGT>CAT
HGVS:
  • NC_000002.12:g.178746912C>T
  • NG_011618.3:g.88891G>A
  • NM_001256850.1:c.10361-4991G>A
  • NM_001267550.2:c.11312-4991G>AMANE SELECT
  • NM_003319.4:c.10223-4991G>A
  • NM_133378.4:c.10360+6212G>A
  • NM_133379.5:c.15488G>A
  • NM_133432.3:c.10598-4991G>A
  • NM_133437.4:c.10799-4991G>A
  • NP_596870.2:p.Arg5163His
  • LRG_391:g.88891G>A
  • NC_000002.11:g.179611639C>T
  • NM_001267550.2:c.11312-4991G>A
  • NM_133379.3:c.15488G>A
Protein change:
R5163H
Links:
dbSNP: rs150492317
NCBI 1000 Genomes Browser:
rs150492317
Molecular consequence:
  • NM_001256850.1:c.10361-4991G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11312-4991G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10223-4991G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+6212G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10598-4991G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10799-4991G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.15488G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000238142GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 9, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238142.5

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

Description

Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).

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

Last Updated: Aug 25, 2024