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NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Sep 24, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000040410.20

Allele description [Variation Report for NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)]

NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)

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.58869A>G (p.Lys19623=)
HGVS:
  • NC_000002.12:g.178593339T>C
  • NG_011618.3:g.242464A>G
  • NG_051363.1:g.75513T>C
  • NM_001256850.1:c.53946A>G
  • NM_001267550.2:c.58869A>GMANE SELECT
  • NM_003319.4:c.31674A>G
  • NM_133378.4:c.51165A>G
  • NM_133432.3:c.32049A>G
  • NM_133437.4:c.32250A>G
  • NP_001243779.1:p.Lys17982=
  • NP_001254479.2:p.Lys19623=
  • NP_003310.4:p.Lys10558=
  • NP_596869.4:p.Lys17055=
  • NP_597676.3:p.Lys10683=
  • NP_597681.4:p.Lys10750=
  • LRG_391:g.242464A>G
  • NC_000002.11:g.179458066T>C
  • NM_003319.4:c.31674A>G
  • c.51165A>G
  • p.Lys17055Lys
Links:
dbSNP: rs191066933
NCBI 1000 Genomes Browser:
rs191066933
Molecular consequence:
  • NM_001256850.1:c.53946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.58869A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.31674A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.51165A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.32049A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.32250A>G - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000064101Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Mar 19, 2012)
germlineclinical testing

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

SCV000342022Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(Jun 17, 2016)
germlineclinical testing

Citation Link,

SCV001437451Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Sep 24, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided44not 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, Mass General Brigham Personalized Medicine, SCV000064101.6

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

Description

p.Lys17055Lys in Exon 248 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and has been identified in 0.4% (11/3044) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS;).

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

From Eurofins Ntd Llc (ga), SCV000342022.3

#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, SCV001437451.1

#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: Oct 8, 2024