chr1:156108298:C>T 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	chr1:156,108,298-156,108,298
hg38	chr1:156,138,507-156,138,507 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1718C>T	NP_001269555.1:p.Ser573Leu
	NM_001257374.2:c.1382C>T	NP_001244303.1:p.Ser461Leu
	NM_170707.3:c.1718C>T	NP_733821.1:p.Ser573Leu
Ensemble	ENST00000675939.1:c.1718C>T	ENST00000675939.1:p.Ser573Leu
	ENST00000675667.1:c.1718C>T	ENST00000675667.1:p.Ser573Leu
	ENST00000473598.6:c.1421C>T	ENST00000473598.6:p.Ser474Leu
	ENST00000683032.1:c.1718C>T	ENST00000683032.1:p.Ser573Leu
	ENST00000361308.9:c.1718C>T	ENST00000361308.9:p.Ser573Leu
	ENST00000368299.7:c.1718C>T	ENST00000368299.7:p.Ser573Leu
	ENST00000448611.6:c.1382C>T	ENST00000448611.6:p.Ser461Leu
	ENST00000504687.7:c.1160C>T	ENST00000504687.7:p.Ser387Leu
	ENST00000368300.9:c.1718C>T	ENST00000368300.9:p.Ser573Leu
	ENST00000682650.1:c.1628C>T	ENST00000682650.1:p.Ser543Leu
	ENST00000676385.2:c.1628C>T	ENST00000676385.2:p.Ser543Leu

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
Show details

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	COSM4698227	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-02-01	no assertion criteria provided	dilated cardiomyopathy 1A	germline unknown	Detail
Pathogenic	2007-02-01	no assertion criteria provided	Mandibuloacral dysplasia with type A lipodystrophy, atypical	germline	Detail
Pathogenic	2007-02-01	no assertion criteria provided	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Uncertain significance	2022-04-28	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2023-02-01	criteria provided, conflicting interpretations	not provided	germline not provided unknown	Detail
Uncertain significance	2024-01-12	criteria provided, single submitter		germline	Detail
Likely benign	2024-01-26	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Uncertain significance	2023-04-05	criteria provided, single submitter	cardiomyopathy	germline	Detail
Benign	2020-01-22	criteria provided, single submitter	familial partial lipodystrophy	germline	Detail
Uncertain significance	2021-07-20	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1	germline	Detail
Pathogenic	2022-04-15	no assertion criteria provided	congenital muscular dystrophy due to LMNA mutation	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Familial Partial Lipodystrophy, Type 2	NA	CLINVAR		Detail
0.485	Mandibuloacral dysostosis	The S573L homozygous LMNA mutation is associated with a novel phenotype of arthr...	BeFree	16278265	Detail
<0.001	Acro-Osteolysis	The S573L homozygous LMNA mutation is associated with a novel phenotype of arthr...	BeFree	16278265	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Mandibuloacral dysplasia with type A lipodystrophy, at...	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND not specified	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Familial partial lipodystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Charcot-Marie-Tooth disease type 2B1	ClinVar	Detail
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) AND Congenital muscular dystrophy due to LMNA mutation	ClinVar	Detail
NA	DisGeNET	Detail
The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous ca...	DisGeNET	Detail
The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous ca...	DisGeNET	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: rs60890628 dbSNP
Genome: hg19
Position: chr1:156,108,298-156,108,298
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8074
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): 104232
Allele Counts in All Race (ExAC): 11
Heterozygous Counts in All Race (ExAC): 11
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0553380919487298E-4

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