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NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 30, 2015)
Last evaluated:
Jan 13, 2015
Accession:
VCV000214624.1
Variation ID:
214624
Description:
3bp microsatellite
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NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del)

Allele ID
210862
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
2p21
Genomic location
2: 43995833-43995835 (GRCh38) GRCh38 UCSC
2: 44222972-44222974 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44222972AGG[1]
NC_000002.12:g.43995833AGG[1]
NM_133259.4:c.110CCT[1] MANE Select NP_573566.2:p.Ser38del
NG_008247.1:g.5168CCT[1]
Protein change
S38del
Other names
-
Canonical SPDI
NC_000002.12:43995832:AGGAGG:AGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA321913
dbSNP: rs863224061
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 Jan 13, 2015 RCV000197447.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRPPRC - - GRCh38
GRCh37
785 806

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000251689.3
Submitted: (Sep 30, 2015)
Evidence details
Comment:
c.113_115delCCT: p.Ser38del (S38del) in exon 1 of the LRPPRC gene (NM_133259.3). The normal sequence with the bases that are deleted in braces is: GCCT{CCT}ATCT A … (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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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 rs863224061...

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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 May 28, 2021