NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly) AND not provided

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Feb 15, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000994133.25

Allele description [Variation Report for NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly)]

NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly)

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.1148A>G (p.Glu383Gly)

HGVS:

NC_000001.11:g.156136112A>G
NG_008692.2:g.58540A>G
NM_001257374.3:c.812A>G
NM_001282624.2:c.905A>G
NM_001282625.2:c.1148A>G
NM_001282626.2:c.1148A>G
NM_005572.4:c.1148A>G
NM_170707.4:c.1148A>GMANE SELECT
NM_170708.4:c.1148A>G
NP_001244303.1:p.Glu271Gly
NP_001269553.1:p.Glu302Gly
NP_001269554.1:p.Glu383Gly
NP_001269555.1:p.Glu383Gly
NP_005563.1:p.Glu383Gly
NP_733821.1:p.Glu383Gly
NP_733822.1:p.Glu383Gly
LRG_254t2:c.1148A>G
LRG_254:g.58540A>G
NC_000001.10:g.156105903A>G
NM_170707.2:c.1148A>G

Protein change:

E271G

Links:

dbSNP: rs1448774273

NCBI 1000 Genomes Browser:

rs1448774273

Molecular consequence:

NM_001257374.3:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001147461	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jul 1, 2017)	germline	clinical testing	Citation Link,
SCV001743236	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001958855	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV002562621	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 15, 2022)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001147461.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743236.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958855.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV002562621.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10939567)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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