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NM_001267550.2(TTN):c.18054A>C (p.Pro6018=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jun 1, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001727811.5

Allele description [Variation Report for NM_001267550.2(TTN):c.18054A>C (p.Pro6018=)]

NM_001267550.2(TTN):c.18054A>C (p.Pro6018=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18054A>C (p.Pro6018=)
HGVS:
  • NC_000002.12:g.178730346T>G
  • NG_011618.3:g.105457A>C
  • NM_001256850.1:c.17103A>C
  • NM_001267550.2:c.18054A>CMANE SELECT
  • NM_003319.4:c.13282+7736A>C
  • NM_133378.4:c.14322A>C
  • NM_133432.3:c.13657+7736A>C
  • NM_133437.4:c.13858+7736A>C
  • NP_001243779.1:p.Pro5701=
  • NP_001254479.2:p.Pro6018=
  • NP_596869.4:p.Pro4774=
  • LRG_391:g.105457A>C
  • NC_000002.11:g.179595073T>G
Links:
dbSNP: rs575829011
NCBI 1000 Genomes Browser:
rs575829011
Molecular consequence:
  • NM_003319.4:c.13282+7736A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+7736A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+7736A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17103A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.18054A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.14322A>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV001974447Clinical 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

SCV005074798CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Jun 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974447.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV005074798.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

TTN: BP4, BP7

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

Last Updated: Nov 24, 2024