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NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) AND TTN-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV004545740.1

Allele description [Variation Report for NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)]

NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)

Genes:
LOC126806430:BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
Other names:
p.D5932N:GAC>AAC
HGVS:
  • NC_000002.12:g.178729411C>T
  • NG_011618.3:g.106392G>A
  • NM_001256850.1:c.17794G>A
  • NM_001267550.2:c.18745G>AMANE SELECT
  • NM_003319.4:c.13282+8671G>A
  • NM_133378.4:c.15013G>A
  • NM_133432.3:c.13657+8671G>A
  • NM_133437.4:c.13858+8671G>A
  • NP_001243779.1:p.Asp5932Asn
  • NP_001254479.2:p.Asp6249Asn
  • NP_596869.4:p.Asp5005Asn
  • LRG_391:g.106392G>A
  • NC_000002.11:g.179594138C>T
  • c.15013G>A
Protein change:
D5005N
Links:
dbSNP: rs201263441
NCBI 1000 Genomes Browser:
rs201263441
Molecular consequence:
  • NM_003319.4:c.13282+8671G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8671G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8671G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17794G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18745G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.15013G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TTN-related disorder
Synonyms:
TTN-related condition; TTN-Related Disorders; TTN-related disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423230GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 07-09-2015 by Lab or GTR ID 500060. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024