NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000154999.4

Allele description [Variation Report for NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)]

NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
Other names:
p.E3613K:GAA>AAA
HGVS:
  • NC_000002.12:g.178741445C>T
  • NG_011618.3:g.94358G>A
  • NM_001256850.1:c.10837G>A
  • NM_001267550.2:c.11788G>AMANE SELECT
  • NM_003319.4:c.10699G>A
  • NM_133378.4:c.10361-3085G>A
  • NM_133432.3:c.11074G>A
  • NM_133437.4:c.11275G>A
  • NP_001243779.1:p.Glu3613Lys
  • NP_001254479.2:p.Glu3930Lys
  • NP_003310.4:p.Glu3567Lys
  • NP_597676.3:p.Glu3692Lys
  • NP_597681.4:p.Glu3759Lys
  • LRG_391t1:c.11788G>A
  • LRG_391:g.94358G>A
  • NC_000002.11:g.179606172C>T
  • NM_001267550.1:c.11788G>A
Protein change:
E3567K
Links:
dbSNP: rs186624523
NCBI 1000 Genomes Browser:
rs186624523
Molecular consequence:
  • NM_133378.4:c.10361-3085G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.10837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.11788G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.10699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.11074G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.11275G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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
SCV000204681Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Dec 23, 2014)
germlineclinical testing

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

SCV000238168GeneDxcriteria provided, single submitter
Likely benign
(Jun 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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, SCV000204681.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

p.Glu3692Lys in exon 45B of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the chinchilla, bush-tailed rat, rabbit, and pika have a lysine (Lys) at t his position despite high nearby amino acid conservation. It has also been ident ified in 41/67642 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs186624523).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

From GeneDx, SCV000238168.3

#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: Jul 7, 2021

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