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NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 18, 2017)
Last evaluated:
Dec 18, 2017
Accession:
VCV000523036.2
Variation ID:
523036
Description:
3bp deletion
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NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del)

Allele ID
513556
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
5q32
Genomic location
5: 148111785-148111787 (GRCh38) GRCh38 UCSC
5: 147491348-147491350 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006846.3:c.1710_1712del
LRG_110:g.52816_52818del
LRG_110t1:c.1712_1714del LRG_110p1:p.Arg571del
... more HGVS
Protein change
R571del
Other names
-
Canonical SPDI
NC_000005.10:148111784:TCGTC:TC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796654
dbSNP: rs1554105558
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 18, 2017 RCV000626241.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPINK5 - - GRCh38
GRCh37
601 618

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
Netherton syndrome
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746891.1
Submitted: (Dec 18, 2017)
Evidence details

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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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 rs1554105558...

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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 Sep 07, 2021