NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 13, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197447.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del)]

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

Gene:
LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del)
HGVS:
  • NC_000002.12:g.43995833AGG[1]
  • NG_008247.1:g.5168CCT[1]
  • NM_133259.4:c.110CCT[1]MANE SELECT
  • NP_573566.2:p.Ser38del
  • NC_000002.11:g.44222972AGG[1]
  • NM_133259.3:c.113_115delCCT
  • p.S38del
Protein change:
S38del
Links:
dbSNP: rs863224061
NCBI 1000 Genomes Browser:
rs863224061
Molecular consequence:
  • NM_133259.4:c.110CCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251689GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 13, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251689.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 variant of unknown significance has been identified in the LRPPRC gene. The c.113_115delCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This deletion of three nucleotides causes a deletion of a Serine residue at codon 38, denoted p.Ser38del. The c.113_115delCCT variant occurs at a position that is not conserved across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in OAPEO-MITOP panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 28, 2021

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