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NM_133379.5(TTN):c.11360del (p.Glu3787fs) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 20, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000732094.6

Allele description [Variation Report for NM_133379.5(TTN):c.11360del (p.Glu3787fs)]

NM_133379.5(TTN):c.11360del (p.Glu3787fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_133379.5(TTN):c.11360del (p.Glu3787fs)
HGVS:
  • NC_000002.12:g.178751040del
  • NG_011618.3:g.84763del
  • NM_001256850.1:c.10360+2084del
  • NM_001267550.2:c.11311+2084delMANE SELECT
  • NM_003319.4:c.10222+2084del
  • NM_133378.4:c.10360+2084del
  • NM_133379.5:c.11360del
  • NM_133432.3:c.10597+2084del
  • NM_133437.4:c.10798+2084del
  • NP_596870.2:p.Glu3787fs
  • LRG_391:g.84763del
  • NC_000002.11:g.179615767del
Protein change:
E3787fs
Links:
dbSNP: rs1309605744
NCBI 1000 Genomes Browser:
rs1309605744
Molecular consequence:
  • NM_133379.5:c.11360del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256850.1:c.10360+2084del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+2084del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+2084del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+2084del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+2084del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+2084del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

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
SCV000860000Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(Mar 8, 2018)
germlineclinical testing

Citation Link,

SCV002503005AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 20, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000860000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002503005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2024