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

Clinical significance:Likely benign (Last evaluated: Jun 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000619410.2

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:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000736543Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 9, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, et al.

Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043.

PubMed [citation]
PMID:
29590070
PMCID:
PMC5959723

Details of each submission

From Ambry Genetics, SCV000736543.3

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

Description

Insufficient or conflicting evidence

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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