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NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2020
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:
RCV002336298.2

Allele description [Variation Report for NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)]

NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)

Genes:
LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [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.497G>A (p.Arg166Gln)
HGVS:
  • NC_000001.11:g.156130757G>A
  • NG_008692.2:g.53185G>A
  • NM_001257374.3:c.161G>A
  • NM_001282624.2:c.254G>A
  • NM_001282625.2:c.497G>A
  • NM_001282626.2:c.497G>A
  • NM_005572.4:c.497G>A
  • NM_170707.4:c.497G>AMANE SELECT
  • NM_170708.4:c.497G>A
  • NP_001244303.1:p.Arg54Gln
  • NP_001269553.1:p.Arg85Gln
  • NP_001269554.1:p.Arg166Gln
  • NP_001269555.1:p.Arg166Gln
  • NP_005563.1:p.Arg166Gln
  • NP_733821.1:p.Arg166Gln
  • NP_733822.1:p.Arg166Gln
  • LRG_254t1:c.497G>A
  • LRG_254t2:c.497G>A
  • LRG_254:g.53185G>A
  • NC_000001.10:g.156100548G>A
  • NM_005572.3:c.497G>A
  • NM_170707.2:c.497G>A
  • NM_170707.3:c.497G>A
Protein change:
R166Q
Links:
dbSNP: rs267607570
NCBI 1000 Genomes Browser:
rs267607570
Molecular consequence:
  • NM_001257374.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002644010Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 21, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F.

Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.

PubMed [citation]
PMID:
28688748

Details of each submission

From Ambry Genetics, SCV002644010.2

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

Description

The p.R166Q variant (also known as c.497G>A), located in coding exon 2 of the LMNA gene, results from a G to A substitution at nucleotide position 497. The arginine at codon 166 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a single patient who presented with a congenital muscular dystrophy phenotype, but additional information regarding zygosity was unavailable (Sframeli M et al. Neuromuscul Disord, 2017 Sep;27:793-803). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024