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NM_170707.4(LMNA):c.178C>A (p.Arg60Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2021
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:
RCV002407755.2

Allele description [Variation Report for NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)]

NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)

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.178C>A (p.Arg60Ser)
HGVS:
  • NC_000001.11:g.156115096C>A
  • NG_008692.2:g.37524C>A
  • NM_001282625.2:c.178C>A
  • NM_001282626.2:c.178C>A
  • NM_001406983.1:c.178C>A
  • NM_001406984.1:c.178C>A
  • NM_001406985.1:c.178C>A
  • NM_001406986.1:c.-246C>A
  • NM_001406990.1:c.-224C>A
  • NM_001406991.1:c.178C>A
  • NM_001406992.1:c.178C>A
  • NM_001406994.1:c.-487C>A
  • NM_001406995.1:c.-224C>A
  • NM_001406999.1:c.-667C>A
  • NM_001407000.1:c.-487C>A
  • NM_001407001.1:c.-330C>A
  • NM_001407002.1:c.-224C>A
  • NM_005572.4:c.178C>A
  • NM_170707.4:c.178C>AMANE SELECT
  • NM_170708.4:c.178C>A
  • NP_001269554.1:p.Arg60Ser
  • NP_001269555.1:p.Arg60Ser
  • NP_001393912.1:p.Arg60Ser
  • NP_001393913.1:p.Arg60Ser
  • NP_001393914.1:p.Arg60Ser
  • NP_001393920.1:p.Arg60Ser
  • NP_001393921.1:p.Arg60Ser
  • NP_005563.1:p.Arg60Ser
  • NP_005563.1:p.Arg60Ser
  • NP_733821.1:p.Arg60Ser
  • NP_733821.1:p.Arg60Ser
  • NP_733822.1:p.Arg60Ser
  • NP_733822.1:p.Arg60Ser
  • LRG_254t1:c.178C>A
  • LRG_254t2:c.178C>A
  • LRG_254t3:c.178C>A
  • LRG_254:g.37524C>A
  • LRG_254p1:p.Arg60Ser
  • LRG_254p2:p.Arg60Ser
  • LRG_254p3:p.Arg60Ser
  • NC_000001.10:g.156084887C>A
  • NM_005572.3:c.178C>A
  • NM_170707.2:c.178C>A
  • NM_170708.2:c.178C>A
  • NR_047544.1:n.819C>A
Protein change:
R60S
Molecular consequence:
  • NM_001282625.2:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406983.1:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406984.1:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406985.1:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406991.1:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406992.1:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.178C>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
SCV002717191Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 18, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002717191.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R60S variant (also known as c.178C>A), located in coding exon 1 of the LMNA gene, results from a C to A substitution at nucleotide position 178. The arginine at codon 60 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: May 1, 2024