NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 29, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000155823.6

Allele description [Variation Report for NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)]

NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)

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.89989T>A (p.Leu29997Met)
Other names:
p.L28356M:TTG>ATG
HGVS:
  • NC_000002.12:g.178552911A>T
  • NG_011618.3:g.282892T>A
  • NG_051363.1:g.35085A>T
  • NM_001256850.1:c.85066T>A
  • NM_001267550.2:c.89989T>AMANE SELECT
  • NM_003319.4:c.62794T>A
  • NM_133378.4:c.82285T>A
  • NM_133432.3:c.63169T>A
  • NM_133437.4:c.63370T>A
  • NP_001243779.1:p.Leu28356Met
  • NP_001254479.2:p.Leu29997Met
  • NP_003310.4:p.Leu20932Met
  • NP_596869.4:p.Leu27429Met
  • NP_597676.3:p.Leu21057Met
  • NP_597681.4:p.Leu21124Met
  • LRG_391:g.282892T>A
  • NC_000002.11:g.179417638A>T
Protein change:
L20932M
Links:
dbSNP: rs369855092
NCBI 1000 Genomes Browser:
rs369855092
Molecular consequence:
  • NM_001256850.1:c.85066T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.89989T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.62794T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.82285T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.63169T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.63370T>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000205534Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Aug 4, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000237722GeneDxcriteria provided, single submitter
Benign
(Mar 25, 2016)
germlineclinical testing

Citation Link,

SCV000334934EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Sep 3, 2015)
germlineclinical testing

Citation Link,

SCV001737867Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(May 29, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium., Plagnol V, Elliott PM.

J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8.

PubMed [citation]
PMID:
23396983
PMCID:
PMC3607113

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, SCV000205534.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

p.Leu27429Met in exon 284 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1.1% (178/16496) of South Asian chromosomes, including 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs369855092).

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

From GeneDx, SCV000237722.6

#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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000334934.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001737867.1

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

Last Updated: Sep 6, 2021

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