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NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 1999
Accession:
VCV000005655.1
Variation ID:
5655
Description:
2bp indel
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NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter)

Allele ID
20694
Variant type
Indel
Variant length
2 bp
Cytogenetic location
1q31.1
Genomic location
1: 186313753-186313754 (GRCh38) GRCh38 UCSC
1: 186282885-186282886 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.186282885_186282886delCCinsAG
NC_000001.11:g.186313753_186313754delCCinsAG
NM_005807.4:c.4190_4191delCCinsAG NP_005798.3:p.Ser1397Ter nonsense
NG_008248.2:g.22468_22469delCCinsAG
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604283.0005
dbSNP: rs387906339
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 1, 1999 RCV000006009.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRG4 - - GRCh38
GRCh37
9 32
TPR - - GRCh38
GRCh37
1 28

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 1999)
no assertion criteria provided
Method: literature only
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Allele origin: germline
OMIM
Accession: SCV000026191.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Marcelino J Nature genetics 1999 PMID: 10545950

Record last updated Jun 17, 2019