NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000057376.1

Allele description [Variation Report for NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs)]

NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs)
HGVS:
  • NC_000001.11:g.156138750dupG
  • NG_008692.2:g.61178dupG
  • NM_001282626.1:c.1818+143dupG
  • NM_170707.3:c.1961dupG
  • NM_170708.3:c.1871dupG
  • NP_733821.1:p.Thr655Asnfs
  • NP_733822.1:p.Thr625Asnfs
  • LRG_254:g.61178dupG
  • LRG_254p2:p.Thr655Asnfs
  • LRG_254p3:p.Thr625Asnfs
  • NC_000001.10:g.156108541dupG
  • NM_170707.2:c.1961dup
  • NM_170707.2:c.1961dupG
  • NM_170707.3:c.1961_1962insG
Note:
Until May, 2014, ClinVar represented this variant as LMNA:c.1964_1965insG (as it was submitted). Based on review by one of our users, and review of the source paper which reports the amino acid change after LLGNSSGPR (Decaudain et al., PMID:17711925) we have corrected the HGVS expression to NM_170707.3:c.1961dupG.
Links:
dbSNP: rs863225024
NCBI 1000 Genomes Browser:
rs863225024
Molecular consequence:
  • NM_170707.3:c.1961dupG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282626.1:c.1818+143dupG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088489Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088489.1

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

Last Updated: Sep 8, 2018