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NM_020639.2(RIPK4):c.488G>A (p.Gly163Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 12, 2018)
Last evaluated:
Sep 1, 2017
Accession:
VCV000561098.1
Variation ID:
561098
Description:
single nucleotide variant
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NM_020639.2(RIPK4):c.488G>A (p.Gly163Asp)

Allele ID
552226
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 41751232 (GRCh38) GRCh38 UCSC
21: 43171392 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.43171392C>T
NC_000021.9:g.41751232C>T
NM_020639.2:c.488G>A NP_065690.2:p.Gly163Asp missense
NG_032113.1:g.20858G>A
Protein change
G163D
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605706.0005
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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 Sep 1, 2017 RCV000680083.1
Pathogenic 1 no assertion criteria provided Oct 14, 2018 RCV000710014.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RIPK4 - - GRCh38
GRCh37
73 142

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Popliteal pterygium syndrome lethal type
(Autosomal recessive inheritance)
Allele origin: germline
Baylor Miraca Genetics Laboratories,
Accession: SCV000807523.1
Submitted: (Oct 16, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Possible pathogenicity based on finding it once in our laboratory homozygous in a 5-year-old female with speech delay, bilateral cleft lip and palate, ectodermal dysplasia ... (more)
Pathogenic
(Oct 14, 2018)
no assertion criteria provided
Method: literature only
CHAND SYNDROME
Allele origin: germline
OMIM
Accession: SCV000840379.2
Submitted: (Oct 12, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Molecular findings among patients referred for clinical whole-exome sequencing. Yang Y JAMA 2014 PMID: 25326635
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. Gripp KW American journal of medical genetics. Part A 2013 PMID: 23610050

Record last updated Jun 17, 2019