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NM_002655.3(PLAG1):c.1363del (p.Gln455fs) AND Silver-Russell syndrome 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491883.2

Allele description [Variation Report for NM_002655.3(PLAG1):c.1363del (p.Gln455fs)]

NM_002655.3(PLAG1):c.1363del (p.Gln455fs)

Gene:
PLAG1:PLAG1 zinc finger [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_002655.3(PLAG1):c.1363del (p.Gln455fs)
HGVS:
  • NC_000008.11:g.56166385del
  • NG_023310.1:g.49918del
  • NM_001114634.2:c.1363del
  • NM_001114635.2:c.1117del
  • NM_002655.3:c.1363delMANE SELECT
  • NP_001108106.1:p.Gln455fs
  • NP_001108107.1:p.Gln373fs
  • NP_002646.2:p.Gln455fs
  • NC_000008.10:g.57078944del
Nucleotide change:
1-BP DEL, NT1363
Protein change:
Q373fs
Links:
OMIM: 603026.0002; dbSNP: rs1114167318
NCBI 1000 Genomes Browser:
rs1114167318
Molecular consequence:
  • NM_001114634.2:c.1363del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114635.2:c.1117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002655.3:c.1363del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
reduced [Variation Ontology: 0290]

Condition(s)

Name:
Silver-Russell syndrome 1 (SRS1)
Identifiers:
MONDO: MONDO:0020796; MedGen: C5393125; Orphanet: 813; OMIM: 180860

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297813Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes Silver-Russell Syndrome
no assertion criteria provided
Pathogenicde novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
de novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes Silver-Russell Syndrome, SCV000297813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024