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NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Mar 1, 2018
Accession:
VCV000556848.1
Variation ID:
556848
Description:
4bp deletion
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NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)

Allele ID
545856
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
10q21.1
Genomic location
10: 53823175-53823178 (GRCh38) GRCh38 UCSC
10: 55582934-55582938 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.55582938_55582941del
NC_000010.11:g.53823178_53823181del
NM_001142763.2:c.4569_4572del NP_001136235.1:p.Ser1524fs frameshift
... more HGVS
Protein change
S1477fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1233449433
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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 Mar 1, 2018 RCV000672908.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCDH15 - - GRCh38
GRCh37
825 865

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 01, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 1F
Allele origin: unknown
Counsyl
Accession: SCV000798061.1
Submitted: (Jul 10, 2018)
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 Oct 27, 2019