NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) AND Cardiovascular phenotype

Clinical significance:Pathogenic (Last evaluated: Nov 24, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000242991.1

Allele description

NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys)
Other names:
p.R541C:CGC>TGC
HGVS:
  • NC_000001.11:g.156137666C>T
  • NG_008692.2:g.60094C>T
  • NM_005572.3:c.1621C>T
  • NM_170707.3:c.1621C>T
  • NM_170708.3:c.1608+434C>T
  • NP_005563.1:p.Arg541Cys
  • NP_733821.1:p.Arg541Cys
  • LRG_254t1:c.1621C>T
  • LRG_254:g.60094C>T
  • LRG_254p1:p.Arg541Cys
  • LRG_254p2:p.Arg541Cys
  • NC_000001.10:g.156107457C>T
  • NM_170707.2:c.1621C>T
  • P02545:p.Arg541Cys
  • c.1621C>T
Protein change:
R541C
Links:
UniProtKB: P02545#VAR_039786; dbSNP: rs56984562
NCBI 1000 Genomes Browser:
rs56984562
Molecular consequence:
  • NM_170708.3:c.1608+434C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170707.3:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320572Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 24, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000320572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2017