NM_001267550.2(TTN):c.43481-16dup AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000468420.6

Allele description [Variation Report for NM_001267550.2(TTN):c.43481-16dup]

NM_001267550.2(TTN):c.43481-16dup

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.43481-16dup
HGVS:
  • NC_000002.12:g.178632429dup
  • NG_011618.3:g.203381dup
  • NM_001256850.1:c.38558-16dup
  • NM_001267550.2:c.43481-16dupMANE SELECT
  • NM_001267550.2:c.43481-9dup
  • NM_003319.4:c.16286-16dup
  • NM_133378.4:c.35777-16dup
  • NM_133432.3:c.16661-16dup
  • NM_133437.4:c.16862-16dup
  • LRG_391:g.203381dup
  • NC_000002.11:g.179497156dup
  • NM_001256850.1:c.38558-9dupT
  • NM_001267550.2:c.43481-9dupMANE SELECT
  • NM_001267550.2:c.43481-9dupTMANE SELECT
  • NM_133378.4:c.35777-9dupT
Links:
dbSNP: rs730880350
NCBI 1000 Genomes Browser:
rs730880350

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
Name:
Limb-girdle muscular dystrophy, type 2J (LGMDR10)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:
MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000555035Invitaecriteria provided, single submitter
Likely benign
(Nov 6, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000555035.6

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

Last Updated: Jul 7, 2021

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