chr1:156138719:C>T Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,108,510-156,108,510 View the variant detail on this assembly version.
hg38 chr1:156,138,719-156,138,719

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.1818+112C>T
NM_170707.3:c.1930C>T NP_733821.1:p.Arg644Cys
NM_001257374.2:c.1594C>T NP_001244303.1:p.Arg532Cys
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
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 tgv301998586 TogoVar
COSMIC COSM897122 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2009-11-01 no assertion criteria provided Variant of unknown significance germline Detail
Conflicting interpretations of pathogenicity 2024-03-30 criteria provided, conflicting interpretations not specified germline Detail
Conflicting interpretations of pathogenicity 2022-03-08 criteria provided, conflicting interpretations not provided germline not provided unknown Detail
Uncertain significance criteria provided, single submitter Charcot-Marie-Tooth disease germline tested-inconclusive Detail
Uncertain significance 2014-06-01 no assertion criteria provided Primary dilated cardiomyopathy germline Detail
Likely benign 2021-11-05 criteria provided, single submitter germline Detail
Uncertain significance 2019-05-09 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1A unknown Detail
Benign Likely benign 2019-09-12 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Benign 2018-11-02 criteria provided, single submitter Monogenic diabetes unknown Detail
Uncertain significance 2023-03-20 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter dilated cardiomyopathy 1A,congenital muscular dystrophy due to LMNA mutation,Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2023-04-07 criteria provided, single submitter LMNA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.298 Cardiomyopathy, Dilated The presumed pathogenic mutations were distributed with one case of suspected HC... BeFree 22177269 Detail
0.262 Cardiomyopathy, Dilated The presumed pathogenic mutations were distributed with one case of suspected HC... BeFree 22177269 Detail
0.130 Charcot-Marie-Tooth disease NA CLINVAR Detail
0.298 Cardiomyopathy, Dilated NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Variant of unknown significance ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND not specified ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Monogenic diabetes ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) AND LMNA-related disorder ClinVar Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R... DisGeNET Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R... DisGeNET Detail
NA 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
rs142000963 dbSNP
Genome
hg38
Position
chr1:156,138,719-156,138,719
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8540
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)
116680
Allele Counts in All Race (ExAC)
145
Heterozygous Counts in All Race (ExAC)
143
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0012427151182721975
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