U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 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:
RCV000156313.4

Allele description [Variation Report for NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)]

NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)

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.93182G>A (p.Arg31061His)
Other names:
p.R29420H:CGT>CAT
HGVS:
  • NC_000002.12:g.178548444C>T
  • NG_011618.3:g.287359G>A
  • NG_051363.1:g.30618C>T
  • NM_001256850.1:c.88259G>A
  • NM_001267550.2:c.93182G>AMANE SELECT
  • NM_003319.4:c.65987G>A
  • NM_133378.4:c.85478G>A
  • NM_133432.3:c.66362G>A
  • NM_133437.4:c.66563G>A
  • NP_001243779.1:p.Arg29420His
  • NP_001254479.2:p.Arg31061His
  • NP_003310.4:p.Arg21996His
  • NP_596869.4:p.Arg28493His
  • NP_597676.3:p.Arg22121His
  • NP_597681.4:p.Arg22188His
  • LRG_391:g.287359G>A
  • NC_000002.11:g.179413171C>T
  • NM_003319.4:c.65987G>A
Protein change:
R21996H
Links:
dbSNP: rs727504923
NCBI 1000 Genomes Browser:
rs727504923
Molecular consequence:
  • NM_001256850.1:c.88259G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.93182G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.65987G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.85478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.66362G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.66563G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000206031Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Feb 17, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206031.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Arg28493His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Additional in formation is needed to fully assess the clinical significance of this variant.

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

Last Updated: Sep 29, 2024