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NM_004415.4(DSP):c.1903+7T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Mar 21, 2019)
Last evaluated:
Jan 26, 2018
Accession:
VCV000036019.1
Variation ID:
36019
Description:
single nucleotide variant
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NM_004415.4(DSP):c.1903+7T>C

Allele ID
44683
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7571591 (GRCh38) GRCh38 UCSC
6: 7571824 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.7571591T>C
NC_000006.11:g.7571824T>C
LRG_423t1:c.1903+7T>C
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.02196 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.02341
The Genome Aggregation Database (gnomAD), exomes 0.00602
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02514
Exome Aggregation Consortium (ExAC) 0.00704
Trans-Omics for Precision Medicine (TOPMed) 0.02545
1000 Genomes Project 0.02196
Links
dbSNP: rs28763962
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 29, 2012 RCV000038002.5
Benign 1 criteria provided, single submitter Aug 18, 2011 RCV000029678.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000268301.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000323163.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000373194.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000376891.1
Benign 1 criteria provided, single submitter Jan 26, 2018 RCV000466941.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1293 1329

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
benign
(Aug 18, 2011)
criteria provided, single submitter
Method: curation
Cardiomyopathy
(autosomal unknown)
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000052330.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Benign.
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ectodermal Dysplasia/Skin Fragility Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464914.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Epidermolysis Bullosa, Lethal Acantholytic
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464917.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy, ARVC
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464915.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Skin Fragility-Woolly Hair Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464916.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 29, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168257.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 ... (more)
Benign
(Jan 26, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular cardiomyopathy, type 8
Allele origin: germline
Invitae
Accession: SCV000555786.3
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Dec 09, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000061668.5
Submitted: (Mar 21, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 30, 2019