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NM_000612.6(IGF2):c.157+1_157+2insGC 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:
RCV000490875.2

Allele description [Variation Report for NM_000612.6(IGF2):c.157+1_157+2insGC]

NM_000612.6(IGF2):c.157+1_157+2insGC

Genes:
INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000612.6(IGF2):c.157+1_157+2insGC
HGVS:
  • NC_000011.10:g.2135366_2135367insGC
  • NG_008849.1:g.19238_19239insCG
  • NG_050578.1:g.30844_30845insCG
  • NM_000612.6:c.157+1_157+2insGCMANE SELECT
  • NM_001007139.6:c.157+1_157+2insGC
  • NM_001127598.3:c.325+1_325+2insGC
  • NM_001291861.3:c.157+1_157+2insGC
  • NM_001291862.3:c.157+1_157+2insGC
  • LRG_1031t1:c.157+1_157+2insGC
  • LRG_1031t2:c.157+1_157+2insGC
  • LRG_1031t3:c.157+1_157+2insGC
  • LRG_1031t4:c.157+1_157+2insGC
  • LRG_1031t5:c.325+1_325+2insGC
  • LRG_1031:g.19238_19239insCG
  • NC_000011.9:g.2156596_2156597insGC
Links:
dbSNP: rs1114167321
NCBI 1000 Genomes Browser:
rs1114167321
Molecular consequence:
  • NM_000612.6:c.157+1_157+2insGC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001007139.6:c.157+1_157+2insGC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127598.3:c.325+1_325+2insGC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001291861.3:c.157+1_157+2insGC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001291862.3:c.157+1_157+2insGC - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

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
SCV000297817Centre 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
Pathogenicpaternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
paternalyesnot providednot 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, SCV000297817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024