NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 20, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040718.2

Allele description [Variation Report for NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)]

NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)

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.85769G>A (p.Arg28590Gln)
HGVS:
  • NC_000002.12:g.178560363C>T
  • NG_011618.3:g.275440G>A
  • NG_051363.1:g.42537C>T
  • NM_001256850.1:c.80846G>A
  • NM_001267550.2:c.85769G>AMANE SELECT
  • NM_003319.4:c.58574G>A
  • NM_133378.4:c.78065G>A
  • NM_133432.3:c.58949G>A
  • NM_133437.4:c.59150G>A
  • NP_001243779.1:p.Arg26949Gln
  • NP_001254479.2:p.Arg28590Gln
  • NP_003310.4:p.Arg19525Gln
  • NP_596869.4:p.Arg26022Gln
  • NP_597676.3:p.Arg19650Gln
  • NP_597681.4:p.Arg19717Gln
  • LRG_391:g.275440G>A
  • NC_000002.11:g.179425090C>T
  • c.78065G>A
Protein change:
R19525Q
Links:
dbSNP: rs375667028
NCBI 1000 Genomes Browser:
rs375667028
Molecular consequence:
  • NM_001256850.1:c.80846G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.85769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.58574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.78065G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.58949G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.59150G>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
SCV000064409Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 20, 2013)
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, Partners HealthCare Personalized Medicine, SCV000064409.6

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

Description

The Arg26022Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8208 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Arg26022Gln variant.

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

Last Updated: Sep 26, 2021

Support Center