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NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:
Aug 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000730160.23

Allele description [Variation Report for NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)]

NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)

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.54178G>A (p.Val18060Ile)
HGVS:
  • NC_000002.12:g.178604999C>T
  • NG_011618.3:g.230804G>A
  • NG_051363.1:g.87173C>T
  • NM_001256850.1:c.49255G>A
  • NM_001267550.2:c.54178G>AMANE SELECT
  • NM_003319.4:c.26983G>A
  • NM_133378.4:c.46474G>A
  • NM_133432.3:c.27358G>A
  • NM_133437.4:c.27559G>A
  • NP_001243779.1:p.Val16419Ile
  • NP_001254479.2:p.Val18060Ile
  • NP_003310.4:p.Val8995Ile
  • NP_596869.4:p.Val15492Ile
  • NP_597676.3:p.Val9120Ile
  • NP_597681.4:p.Val9187Ile
  • LRG_391:g.230804G>A
  • NC_000002.11:g.179469726C>T
  • NM_003319.4:c.26983G>A
  • NR_038272.1:n.4186C>T
Protein change:
V15492I
Links:
dbSNP: rs190574498
NCBI 1000 Genomes Browser:
rs190574498
Molecular consequence:
  • NM_001256850.1:c.49255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.54178G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.26983G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.46474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.27358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.27559G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.4186C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000857875Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Nov 7, 2017)
germlineclinical testing

Citation Link,

SCV001745724GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 12, 2020)
germlineclinical testing

Citation Link,

SCV001978163Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001980004Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV003824923Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Sep 6, 2019)
germlineclinical testing

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

SCV004042101CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Aug 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000857875.1

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

From GeneDx, SCV001745724.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001978163.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001980004.1

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

From Revvity Omics, Revvity, SCV003824923.2

#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 Center for Human Genetics Tuebingen, SCV004042101.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

TTN: BP4

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

Last Updated: Nov 24, 2024