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NM_170707.4(LMNA):c.1A>G (p.Met1Val) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 12, 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:
RCV004524855.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1A>G (p.Met1Val)]

NM_170707.4(LMNA):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000001.11:g.156114919A>G
  • NG_008692.2:g.37347A>G
  • NG_164640.1:g.86A>G
  • NM_001282625.2:c.1A>G
  • NM_001282626.2:c.1A>G
  • NM_001406983.1:c.1A>G
  • NM_001406984.1:c.1A>G
  • NM_001406985.1:c.1A>G
  • NM_001406986.1:c.-423A>G
  • NM_001406990.1:c.-401A>G
  • NM_001406991.1:c.1A>G
  • NM_001406992.1:c.1A>G
  • NM_001406993.1:c.-203+8096A>G
  • NM_001406994.1:c.-664A>G
  • NM_001406995.1:c.-401A>G
  • NM_001406999.1:c.-844A>G
  • NM_001407000.1:c.-664A>G
  • NM_001407001.1:c.-507A>G
  • NM_001407002.1:c.-401A>G
  • NM_001407003.1:c.-203+8096A>G
  • NM_005572.4:c.1A>G
  • NM_170707.4:c.1A>GMANE SELECT
  • NM_170708.4:c.1A>G
  • NP_001269554.1:p.Met1Val
  • NP_001269555.1:p.Met1Val
  • NP_001393912.1:p.Met1Val
  • NP_001393913.1:p.Met1Val
  • NP_001393914.1:p.Met1Val
  • NP_001393920.1:p.Met1Val
  • NP_001393921.1:p.Met1Val
  • NP_005563.1:p.Met1Val
  • NP_005563.1:p.Met1Val
  • NP_733821.1:p.Met1Val
  • NP_733821.1:p.Met1Val
  • NP_733822.1:p.Met1Val
  • NP_733822.1:p.Met1Val
  • LRG_254t1:c.1A>G
  • LRG_254t2:c.1A>G
  • LRG_254t3:c.1A>G
  • LRG_254:g.37347A>G
  • LRG_254p1:p.Met1Val
  • LRG_254p2:p.Met1Val
  • LRG_254p3:p.Met1Val
  • NC_000001.10:g.156084710A>G
  • NM_005572.3:c.1A>G
  • NM_170707.2:c.1A>G
  • NM_170708.2:c.1A>G
  • NR_047544.1:n.642A>G
Protein change:
M1V
Molecular consequence:
  • NM_001406986.1:c.-423A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406990.1:c.-401A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406994.1:c.-664A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406995.1:c.-401A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406999.1:c.-844A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407000.1:c.-664A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407001.1:c.-507A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407002.1:c.-401A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282625.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001282626.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406983.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406984.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406985.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406991.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406992.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_005572.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_170707.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_170708.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001406993.1:c.-203+8096A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407003.1:c.-203+8096A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282625.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406983.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406984.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406985.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406991.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406992.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1A>G - 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
SCV005030793Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 12, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]
PMID:
30847666
PMCID:
PMC6533346

Details of each submission

From Ambry Genetics, SCV005030793.1

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

Description

The p.M1? pathogenic mutation (also known as c.1A>G) is located in coding exon 1 of the LMNA gene and results from an A to G substitution at nucleotide position 1. This alters the methionine residue at the initiation codon (ATG). This variant has been detected in an individual with arrhythmia; however, details were not provided (van Lint FHM et al. Neth Heart J. 2019 Jun;27(6):304-309). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 7, 2024