NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000597605.5

Allele description [Variation Report for NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)]

NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
HGVS:
  • NC_000002.12:g.178632970C>T
  • NG_011618.3:g.202833G>A
  • NM_001256850.1:c.38238G>A
  • NM_001267550.2:c.43161G>AMANE SELECT
  • NM_003319.4:c.15966G>A
  • NM_133378.4:c.35457G>A
  • NM_133432.3:c.16341G>A
  • NM_133437.4:c.16542G>A
  • NP_001243779.1:p.Glu12746=
  • NP_001254479.2:p.Glu14387=
  • NP_003310.4:p.Glu5322=
  • NP_596869.4:p.Glu11819=
  • NP_597676.3:p.Glu5447=
  • NP_597681.4:p.Glu5514=
  • LRG_391:g.202833G>A
  • NC_000002.11:g.179497697C>T
Links:
dbSNP: rs765214404
NCBI 1000 Genomes Browser:
rs765214404
Molecular consequence:
  • NM_001256850.1:c.38238G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.43161G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.15966G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.35457G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.16341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.16542G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000701048EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 24, 2017)
germlineclinical testing

Citation Link,

SCV001007320Invitaecriteria provided, single submitter
Benign
(Oct 1, 2018)
germlineclinical testing

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

SCV001246180CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Feb 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701048.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Invitae, SCV001007320.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001246180.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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