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NM_001130987.2(DYSF):c.1033+4A>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 25, 2019)
Last evaluated:
Jun 28, 2019
Accession:
VCV000498216.2
Variation ID:
498216
Description:
single nucleotide variant
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NM_001130987.2(DYSF):c.1033+4A>T

Allele ID
489640
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.2
Genomic location
2: 71520212 (GRCh38) GRCh38 UCSC
2: 71747342 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.71520212A>T
NC_000002.11:g.71747342A>T
NM_001130987.2:c.1033+4A>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:71520211:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA533254958
dbSNP: rs1397221551
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 28, 2019 RCV000594895.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYSF - - GRCh38
GRCh37
2066 2081

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000703112.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Jun 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143827.1
Submitted: (Sep 25, 2019)
Evidence details
Comment:
The best available variant frequency is uninformative because there are too few occurrences in population data. Found in at least one symptomatic patient. Predicted to … (more)

Functional evidence

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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

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DYSF - - - -

Text-mined citations for rs1397221551...

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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 Feb 03, 2021