chr2:71908183:G>A Detail (hg19) (DYSF)

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

Information

Genome

Assembly	Position
hg19	chr2:71,908,183-71,908,183
hg38	chr2:71,681,053-71,681,053 View the variant detail on this assembly version.

HGVS

DYSF

Type	Transcript	Protein
RefSeq	NM_001130976.1:c.5999G>A	NP_001124448.1:p.Arg2000Gln
	NM_003494.3:c.5999G>A	NP_003485.1:p.Arg2000Gln
	NM_001130455.1:c.6002G>A	NP_001123927.1:p.Arg2001Gln
	NM_001130986.1:c.6002G>A	NP_001124458.1:p.Arg2001Gln
	NM_001130983.1:c.6065G>A	NP_001124455.1:p.Arg2022Gln
	NM_001130981.1:c.6113G>A	NP_001124453.1:p.Arg2038Gln
	NM_001130982.1:c.6095G>A	NP_001124454.1:p.Arg2032Gln
	NM_001130984.1:c.6023G>A	NP_001124456.1:p.Arg2008Gln
	NM_001130980.1:c.6050G>A	NP_001124452.1:p.Arg2017Gln
	NM_001130987.1:c.6116G>A	NP_001124459.1:p.Arg2039Gln
	NM_001130985.1:c.6053G>A	NP_001124457.1:p.Arg2018Gln
	NM_001130979.1:c.6092G>A	NP_001124451.1:p.Arg2031Gln
	NM_001130977.1:c.6062G>A	NP_001124449.1:p.Arg2021Gln
	NM_001130978.1:c.6062G>A	NP_001124450.1:p.Arg2021Gln
Ensemble	ENST00000258104.8:c.5999G>A	ENST00000258104.8:p.Arg2000Gln
	ENST00000394120.6:c.6002G>A	ENST00000394120.6:p.Arg2001Gln
	ENST00000409366.5:c.6065G>A	ENST00000409366.5:p.Arg2022Gln
	ENST00000409582.7:c.6113G>A	ENST00000409582.7:p.Arg2038Gln
	ENST00000409651.5:c.6095G>A	ENST00000409651.5:p.Arg2032Gln
	ENST00000409744.5:c.6023G>A	ENST00000409744.5:p.Arg2008Gln
	ENST00000409762.5:c.6050G>A	ENST00000409762.5:p.Arg2017Gln
	ENST00000410020.8:c.6116G>A	ENST00000410020.8:p.Arg2039Gln
	ENST00000410041.1:c.6053G>A	ENST00000410041.1:p.Arg2018Gln
	ENST00000413539.6:c.6092G>A	ENST00000413539.6:p.Arg2031Gln
	ENST00000429174.6:c.6062G>A	ENST00000429174.6:p.Arg2021Gln
	ENST00000479049.6:c.2642G>A	ENST00000479049.6:p.Arg881Gln
	ENST00000698058.1:c.2747G>A	ENST00000698058.1:p.Arg916Gln
	ENST00000698059.1:c.2855G>A	ENST00000698059.1:p.Arg952Gln

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

DYSF

Type	Database	ID	Link
Gene	MIM	603009	OMIM
	HGNC	3097	HGNC
	Ensembl	ENSG00000135636	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	2022-02-23	criteria provided, conflicting interpretations	not specified	germline	Detail
Uncertain significance	2022-11-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2019-05-28	criteria provided, multiple submitters, no conflicts	autosomal recessive limb-girdle muscular dystrophy type 2B	germline unknown	Detail
Likely benign	2024-01-31	criteria provided, single submitter	Qualitative or quantitative defects of dysferlin	germline	Detail
Uncertain significance	2021-05-18	criteria provided, multiple submitters, no conflicts	Miyoshi muscular dystrophy 1	germline	Detail
Uncertain significance	2023-04-21	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	DYSF-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.577	Miyoshi myopathy	Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopat...	UNIPROT	11468312	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND not specified	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND not provided	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND Autosomal recessive limb-girdle muscular dystrophy...	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND Qualitative or quantitative defects of dysferlin	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND Miyoshi muscular dystrophy 1	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND DYSF-related disorder	ClinVar	Detail
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.	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: rs115407852 dbSNP
Genome: hg19
Position: chr2:71,908,183-71,908,183
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8598
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): 120274
Allele Counts in All Race (ExAC): 39
Heterozygous Counts in All Race (ExAC): 39
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.242596072301578E-4

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