NM_005572.4(LMNA):c.1712G>A (p.Arg571His) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 11, 2014
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:: RCV000182349.3

Allele description [Variation Report for NM_005572.4(LMNA):c.1712G>A (p.Arg571His)]

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

HGVS:

NC_000001.11:g.156137757G>A
NG_008692.2:g.60185G>A
NM_001257374.3:c.1362+14G>A
NM_001282624.2:c.1469G>A
NM_001282625.2:c.1712G>A
NM_001282626.2:c.1698+14G>A
NM_005572.4:c.1712G>A
NM_170707.4:c.1698+14G>AMANE SELECT
NM_170708.4:c.1608+525G>A
NP_001269553.1:p.Arg490His
NP_001269554.1:p.Arg571His
NP_005563.1:p.Arg571His
NP_005563.1:p.Arg571His
LRG_254t1:c.1712G>A
LRG_254t2:c.1698+14G>A
LRG_254:g.60185G>A
LRG_254p1:p.Arg571His
NC_000001.10:g.156107548G>A
NM_005572.3:c.1712G>A
NM_170707.2:c.1698+14G>A

Protein change:

R490H

Links:

dbSNP: rs200917748

NCBI 1000 Genomes Browser:

rs200917748

Molecular consequence:

NM_001257374.3:c.1362+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.1608+525G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282624.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234661	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jul 11, 2014)	germline	clinical testing	Citation Link,
SCV001923021	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234661

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jul 11, 2014)

germline

clinical testing

Citation Link,

SCV001923021

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234661.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923021.1

#	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

Last Updated: Jan 19, 2025

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