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NM_170707.4(LMNA):c.3G>A (p.Met1Ile) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 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:
RCV000579197.3

Allele description [Variation Report for NM_170707.4(LMNA):c.3G>A (p.Met1Ile)]

NM_170707.4(LMNA):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)
HGVS:
  • NC_000001.11:g.156114921G>A
  • NG_008692.2:g.37349G>A
  • NM_001282625.2:c.3G>A
  • NM_001282626.2:c.3G>A
  • NM_005572.4:c.3G>A
  • NM_170707.4:c.3G>AMANE SELECT
  • NM_170708.4:c.3G>A
  • NP_001269554.1:p.Met1Ile
  • NP_001269555.1:p.Met1Ile
  • NP_005563.1:p.Met1Ile
  • NP_733821.1:p.Met1Ile
  • NP_733822.1:p.Met1Ile
  • LRG_254t2:c.3G>A
  • LRG_254:g.37349G>A
  • NC_000001.10:g.156084712G>A
  • NM_170707.2:c.3G>A
  • NM_170707.3:c.3G>A
  • p.M1I
Protein change:
M1I
Links:
dbSNP: rs794728598
NCBI 1000 Genomes Browser:
rs794728598
Molecular consequence:
  • NM_001282625.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001282626.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_005572.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_170707.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_170708.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001282625.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680546GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Dec 28, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680546.4

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Alters the initiator methionine codon, and the resultant protein would be described as "p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met; Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 488705; ClinVar)

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

Last Updated: Sep 29, 2024