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NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) AND Dilated cardiomyopathy 1A

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Apr 27, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001594396.3

Allele description [Variation Report for NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)]

NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
HGVS:
  • NC_000001.11:g.156134455G>A
  • NG_008692.2:g.56883G>A
  • NM_001257374.3:c.230G>A
  • NM_001282624.2:c.323G>A
  • NM_001282625.2:c.566G>A
  • NM_001282626.2:c.566G>A
  • NM_005572.4:c.566G>A
  • NM_170707.4:c.566G>AMANE SELECT
  • NM_170708.4:c.566G>A
  • NP_001244303.1:p.Arg77Gln
  • NP_001269553.1:p.Arg108Gln
  • NP_001269554.1:p.Arg189Gln
  • NP_001269555.1:p.Arg189Gln
  • NP_005563.1:p.Arg189Gln
  • NP_733821.1:p.Arg189Gln
  • NP_733822.1:p.Arg189Gln
  • LRG_254t2:c.566G>A
  • LRG_254:g.56883G>A
  • NC_000001.10:g.156104246G>A
  • NM_170707.2:c.566G>A
  • NM_170707.3:c.566G>A
Protein change:
R108Q
Links:
dbSNP: rs766856162
NCBI 1000 Genomes Browser:
rs766856162
Molecular consequence:
  • NM_001257374.3:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1A (CMD1A)
Synonyms:
CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001499963KTest Genetics, KTest
no assertion criteria provided

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

SCV001593105Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University
no assertion criteria provided
Likely pathogenic
(Apr 27, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 KTest Genetics, KTest, SCV001499963.1

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

From Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University, SCV001593105.1

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

Last Updated: Sep 29, 2024