NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001707605.2

Allele description [Variation Report for NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)]

NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
HGVS:
  • NC_000002.12:g.178735548A>G
  • NG_011618.3:g.100255T>C
  • NM_001256850.1:c.13947T>C
  • NM_001267550.2:c.14898T>CMANE SELECT
  • NM_003319.4:c.13282+2534T>C
  • NM_133378.4:c.11166T>C
  • NM_133432.3:c.13657+2534T>C
  • NM_133437.4:c.13858+2534T>C
  • NP_001243779.1:p.Ala4649=
  • NP_001254479.2:p.Ala4966=
  • NP_596869.4:p.Ala3722=
  • LRG_391:g.100255T>C
  • NC_000002.11:g.179600275A>G
Links:
dbSNP: rs370105333
NCBI 1000 Genomes Browser:
rs370105333
Molecular consequence:
  • NM_003319.4:c.13282+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+2534T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.13947T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.14898T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.11166T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000726320GeneDxcriteria provided, single submitter
Likely benign
(Aug 14, 2020)
germlineclinical testing

Citation Link,

SCV001980620Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000726320.2

#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, SCV001980620.1

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

Last Updated: Oct 16, 2021

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