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NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004039835.1

Allele description [Variation Report for NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser)]

NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser)

Gene:
PREPL:prolyl endopeptidase like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser)
HGVS:
  • NC_000002.12:g.44326927C>T
  • NG_016429.1:g.39936G>A
  • NM_001042385.2:c.1345G>A
  • NM_001042386.2:c.1333G>A
  • NM_001171603.1:c.1531G>A
  • NM_001171606.2:c.1531G>A
  • NM_001171613.2:c.1264G>AMANE SELECT
  • NM_001171617.1:c.1264G>A
  • NM_001374275.1:c.1531G>A
  • NM_001374276.1:c.1531G>A
  • NM_001374277.1:c.1264G>A
  • NM_006036.4:c.1531G>A
  • NP_001035844.1:p.Gly449Ser
  • NP_001035845.1:p.Gly445Ser
  • NP_001165074.1:p.Gly511Ser
  • NP_001165077.1:p.Gly511Ser
  • NP_001165084.1:p.Gly422Ser
  • NP_001165088.1:p.Gly422Ser
  • NP_001361204.1:p.Gly511Ser
  • NP_001361205.1:p.Gly511Ser
  • NP_001361206.1:p.Gly422Ser
  • NP_006027.2:p.Gly511Ser
  • NC_000002.11:g.44554066C>T
Protein change:
G422S
Links:
dbSNP: rs1470419476
NCBI 1000 Genomes Browser:
rs1470419476
Molecular consequence:
  • NM_001042385.2:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042386.2:c.1333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171603.1:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171606.2:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171613.2:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171617.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374275.1:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374276.1:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374277.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006036.4:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005012523Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 9, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005012523.1

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

Description

The c.1531G>A (p.G511S) alteration is located in exon 10 (coding exon 10) of the PREPL gene. This alteration results from a G to A substitution at nucleotide position 1531, causing the glycine (G) at amino acid position 511 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024