NM_001267550.2(TTN):c.34734A>G (p.Val11578=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000726345.3

Allele description [Variation Report for NM_001267550.2(TTN):c.34734A>G (p.Val11578=)]

NM_001267550.2(TTN):c.34734A>G (p.Val11578=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
HGVS:
  • NC_000002.12:g.178673685T>C
  • NG_011618.3:g.162118A>G
  • NM_001256850.1:c.33612A>G
  • NM_001267550.2:c.34734A>GMANE SELECT
  • NM_003319.4:c.13283-31368A>G
  • NM_133378.4:c.30831A>G
  • NM_133432.3:c.13658-31368A>G
  • NM_133437.4:c.13859-31368A>G
  • NP_001243779.1:p.Val11204=
  • NP_001254479.2:p.Val11578=
  • NP_596869.4:p.Val10277=
  • LRG_391:g.162118A>G
  • NC_000002.11:g.179538412T>C
  • p.Val10277Val
Links:
dbSNP: rs866407525
NCBI 1000 Genomes Browser:
rs866407525
Molecular consequence:
  • NM_003319.4:c.13283-31368A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-31368A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-31368A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.33612A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.34734A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.30831A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000343961EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 26, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000343961.4

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

Last Updated: Nov 27, 2021

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