Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004415.4(DSP):c.7848G>A (p.Ser2616=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 8, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000626495.6
Variation ID:
626495
Description:
single nucleotide variant
Help

NM_004415.4(DSP):c.7848G>A (p.Ser2616=)

Allele ID
614945
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7585110 (GRCh38) GRCh38 UCSC
6: 7585343 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_423:g.48474G>A
LRG_423t1:c.7848G>A
NC_000006.11:g.7585343G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:7585109:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Links
dbSNP: rs148798300
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 23, 2020 RCV000866490.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 4, 2019 RCV000769243.2
Likely benign 1 no assertion criteria provided Mar 12, 2020 RCV001615050.1
Help
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
2554 2597

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 04, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900619.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(May 04, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001346171.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Allele origin: germline
Invitae
Accession: SCV001007594.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 12, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001841760.1
Submitted: (Sep 08, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs148798300...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 12, 2021