NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Feb 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000040716.4

Allele description [Variation Report for NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)]

NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)

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.85691A>T (p.Lys28564Ile)
Other names:
p.K26923I:AAA>ATA
HGVS:
  • NC_000002.12:g.178560441T>A
  • NG_011618.3:g.275362A>T
  • NG_051363.1:g.42615T>A
  • NM_001256850.1:c.80768A>T
  • NM_001267550.2:c.85691A>TMANE SELECT
  • NM_003319.4:c.58496A>T
  • NM_133378.4:c.77987A>T
  • NM_133432.3:c.58871A>T
  • NM_133437.4:c.59072A>T
  • NP_001243779.1:p.Lys26923Ile
  • NP_001254479.2:p.Lys28564Ile
  • NP_003310.4:p.Lys19499Ile
  • NP_596869.4:p.Lys25996Ile
  • NP_596869.4:p.Lys25996Ile
  • NP_597676.3:p.Lys19624Ile
  • NP_597681.4:p.Lys19691Ile
  • LRG_391t1:c.85691A>T
  • LRG_391:g.275362A>T
  • NC_000002.11:g.179425168T>A
  • NM_001267550.1:c.85691A>T
  • NM_133379.3:c.*185144A>T
  • c.77987A>T
Protein change:
K19499I
Links:
dbSNP: rs199859344
NCBI 1000 Genomes Browser:
rs199859344
Molecular consequence:
  • NM_001256850.1:c.80768A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.85691A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.58496A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.77987A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.58871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.59072A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064407Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Apr 11, 2012)
germlineclinical testing

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

SCV000203680EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Feb 28, 2017)
germlineclinical testing

Citation Link,

SCV000237665GeneDxcriteria provided, single submitter
Benign
(Oct 29, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not 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, SCV000064407.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Lys25996Ile in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (14/3022) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/) Lys25996Ile in exon 275 of TTN (allele frequenc y = 0.46%, 14/3022) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203680.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000237665.13

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 18, 2021

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