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NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004002692.2

Allele description [Variation Report for NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)]

NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)

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.848A>G (p.Asn283Ser)
HGVS:
  • NC_000001.11:g.156135224A>G
  • NG_008692.2:g.57652A>G
  • NM_001257374.3:c.512A>G
  • NM_001282624.2:c.605A>G
  • NM_001282625.2:c.848A>G
  • NM_001282626.2:c.848A>G
  • NM_005572.4:c.848A>G
  • NM_170707.4:c.848A>GMANE SELECT
  • NM_170708.4:c.848A>G
  • NP_001244303.1:p.Asn171Ser
  • NP_001269553.1:p.Asn202Ser
  • NP_001269554.1:p.Asn283Ser
  • NP_001269555.1:p.Asn283Ser
  • NP_005563.1:p.Asn283Ser
  • NP_005563.1:p.Asn283Ser
  • NP_733821.1:p.Asn283Ser
  • NP_733822.1:p.Asn283Ser
  • LRG_254t1:c.848A>G
  • LRG_254t2:c.848A>G
  • LRG_254:g.57652A>G
  • LRG_254p1:p.Asn283Ser
  • NC_000001.10:g.156105015A>G
  • NM_005572.3:c.848A>G
  • NM_170707.2:c.848A>G
  • NM_170707.3:c.848A>G
Protein change:
N171S
Links:
dbSNP: rs765241364
NCBI 1000 Genomes Browser:
rs765241364
Molecular consequence:
  • NM_001257374.3:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.605A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
10

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004846228All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Dec 18, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown10not providednot provided108544not providedclinical testing

Citations

PubMed

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, Lopate G, Allred P, Jockel-Balsarotti J, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Apr;25(4):289-96. doi: 10.1016/j.nmd.2014.12.009. Epub 2015 Jan 6.

PubMed [citation]
PMID:
25617006
PMCID:
PMC4372452

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 All of Us Research Program, National Institutes of Health, SCV004846228.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (2)

Description

This missense variant replaces asparagine with serine at codon 283 of the LMNA protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with inclusion body myositis (PMID: 25617006) and in an individual affected with familial partial lipodystrophy type 2 (doi:10.1210/jendso/bvab048.069). This variant has been identified in 8/282512 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided10not providednot providednot provided

Last Updated: Sep 29, 2024