NM_000618.5(IGF1):c.156dup (p.Leu53fs) AND Growth delay due to insulin-like growth factor type 1 deficiency

Germline classification:: Likely 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:: RCV001007823.1

Allele description [Variation Report for NM_000618.5(IGF1):c.156dup (p.Leu53fs)]

NM_000618.5(IGF1):c.156dup (p.Leu53fs)

Genes:

IGF1:insulin like growth factor 1 [Gene - OMIM - HGNC]
LINC02456:long intergenic non-protein coding RNA 2456 [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000618.5(IGF1):c.156dup (p.Leu53fs)

HGVS:

NC_000012.12:g.102475707dup
NG_011713.1:g.9894dup
NM_000618.5:c.156dupMANE SELECT
NM_001111283.3:c.156dup
NM_001111284.2:c.108dup
NM_001111285.3:c.156dup
NP_000609.1:p.Leu53fs
NP_001104753.1:p.Leu53fs
NP_001104754.1:p.Leu37fs
NP_001104755.1:p.Leu53fs
NC_000012.11:g.102869485dup
NM_001111285.1:c.156dup

Protein change:

L37fs

Links:

dbSNP: rs1592837549

NCBI 1000 Genomes Browser:

rs1592837549

Molecular consequence:

NM_000618.5:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001111283.3:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001111284.2:c.108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001111285.3:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Growth delay due to insulin-like growth factor type 1 deficiency (IGF1D)
Synonyms:: Insulin-like growth factor I deficiency; IGF1 deficiency; Growth retardation with sensorineural deafness and mental retardation
Identifiers:: MONDO: MONDO:0012110; MedGen: C1837475; Orphanet: 73272; OMIM: 608747

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167514	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Likely pathogenic	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167514

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Likely pathogenic

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	4	1	not provided	not provided	yes	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	yes	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		4	not provided	1	not provided

Last Updated: Jan 26, 2024

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