NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) AND not specified

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001701694.2

Allele description [Variation Report for NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)]

NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
HGVS:
  • NC_000002.12:g.178658723C>T
  • NG_011618.3:g.177080G>A
  • NM_001256850.1:c.34522+282G>A
  • NM_001267550.2:c.37525G>AMANE SELECT
  • NM_003319.4:c.13283-16406G>A
  • NM_133378.4:c.31741+282G>A
  • NM_133432.3:c.13658-16406G>A
  • NM_133437.4:c.13859-16406G>A
  • NP_001254479.2:p.Glu12509Lys
  • LRG_391:g.177080G>A
  • NC_000002.11:g.179523450C>T
Protein change:
E12509K
Links:
dbSNP: rs201797790
NCBI 1000 Genomes Browser:
rs201797790
Molecular consequence:
  • NM_001256850.1:c.34522+282G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.31741+282G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.37525G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001931189Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001975447Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931189.1

#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, SCV001975447.1

#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: Nov 6, 2021

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