NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000040489.3

Allele description [Variation Report for NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)]

NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)

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.65187G>A (p.Glu21729=)
HGVS:
  • NC_000002.12:g.178584364C>T
  • NG_011618.3:g.251439G>A
  • NG_051363.1:g.66538C>T
  • NM_001256850.1:c.60264G>A
  • NM_001267550.2:c.65187G>AMANE SELECT
  • NM_003319.4:c.37992G>A
  • NM_133378.4:c.57483G>A
  • NM_133432.3:c.38367G>A
  • NM_133437.4:c.38568G>A
  • NP_001243779.1:p.Glu20088=
  • NP_001254479.2:p.Glu21729=
  • NP_003310.4:p.Glu12664=
  • NP_596869.4:p.Glu19161=
  • NP_597676.3:p.Glu12789=
  • NP_597681.4:p.Glu12856=
  • LRG_391:g.251439G>A
  • NC_000002.11:g.179449091C>T
  • c.57483G>A
  • p.Glu19161Glu
Links:
dbSNP: rs397517660
NCBI 1000 Genomes Browser:
rs397517660
Molecular consequence:
  • NM_001256850.1:c.60264G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.65187G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.37992G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.57483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.38367G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.38568G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000064180Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(May 17, 2012)
germlineclinical testing

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

SCV000249277Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Apr 4, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064180.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Glu19161Glu in exon 260 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Glu19161Glu in exon 260 of TTN (allele fre quency = n/a)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From Genetic Services Laboratory, University of Chicago, SCV000249277.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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