chr1:156105747:G>A Detail (hg19) (LMNA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:156,105,747-156,105,747
hg38	chr1:156,135,956-156,135,956 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.992G>A	NP_001269555.1:p.Arg331Gln
	NM_001257374.2:c.656G>A	NP_001244303.1:p.Arg219Gln
	NM_170707.3:c.992G>A	NP_733821.1:p.Arg331Gln
	NM_001282625.1:c.992G>A	NP_001269554.1:p.Arg331Gln
	NM_005572.3:c.992G>A	NP_005563.1:p.Arg331Gln
	NM_001282624.1:c.749G>A	NP_001269553.1:p.Arg250Gln
Ensemble	ENST00000361308.9:c.992G>A	ENST00000361308.9:p.Arg331Gln
	ENST00000368299.7:c.992G>A	ENST00000368299.7:p.Arg331Gln
	ENST00000448611.6:c.656G>A	ENST00000448611.6:p.Arg219Gln
	ENST00000368300.9:c.992G>A	ENST00000368300.9:p.Arg331Gln
	ENST00000682650.1:c.992G>A	ENST00000682650.1:p.Arg331Gln
	ENST00000504687.7:c.434G>A	ENST00000504687.7:p.Arg145Gln
	ENST00000676385.2:c.992G>A	ENST00000676385.2:p.Arg331Gln
	ENST00000675939.1:c.992G>A	ENST00000675939.1:p.Arg331Gln
	ENST00000675667.1:c.992G>A	ENST00000675667.1:p.Arg331Gln
	ENST00000368301.6:c.992G>A	ENST00000368301.6:p.Arg331Gln
	ENST00000677389.1:c.992G>A	ENST00000677389.1:p.Arg331Gln
	ENST00000473598.6:c.695G>A	ENST00000473598.6:p.Arg232Gln
	ENST00000683032.1:c.992G>A	ENST00000683032.1:p.Arg331Gln
	ENST00000368297.5:c.749G>A	ENST00000368297.5:p.Arg250Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

LMNA

Type	Database	ID	Link
Gene	MIM	150330	OMIM
	HGNC	6636	HGNC
	Ensembl	ENSG00000160789	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2022-10-27	criteria provided, conflicting interpretations	not provided	germline	Detail
Pathogenic	2023-09-18	criteria provided, multiple submitters, no conflicts	Primary dilated cardiomyopathy	germline	Detail
Pathogenic Likely pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2020-04-04	criteria provided, single submitter	dilated cardiomyopathy 1A	germline	Detail
Pathogenic	2019-12-13	criteria provided, single submitter		germline	Detail
Pathogenic	2023-05-15	criteria provided, single submitter	Primary familial dilated cardiomyopathy	germline	Detail
Pathogenic		criteria provided, single submitter	LMNA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Primary familial dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND LMNA-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs59301204 dbSNP
Genome: hg19
Position: chr1:156,105,747-156,105,747
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8584
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 118358
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6897886074452087E-5

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