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NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) AND Growth delay due to insulin-like growth factor I resistance

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001118945.8

Allele description [Variation Report for NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)]

NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)

Gene:
IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.3
Genomic location:
Preferred name:
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
HGVS:
  • NC_000015.10:g.98908773A>G
  • NG_009492.1:g.264242A>G
  • NM_000875.5:c.1336A>GMANE SELECT
  • NM_001291858.2:c.1336A>G
  • NP_000866.1:p.Met446Val
  • NP_001278787.1:p.Met446Val
  • LRG_1055t1:c.1336A>G
  • LRG_1055t2:c.1336A>G
  • LRG_1055:g.264242A>G
  • LRG_1055p1:p.Met446Val
  • LRG_1055p2:p.Met446Val
  • NC_000015.9:g.99452002A>G
  • NM_000875.3:c.1336A>G
  • NM_000875.4:c.1336A>G
Protein change:
M446V
Links:
dbSNP: rs117440569
NCBI 1000 Genomes Browser:
rs117440569
Molecular consequence:
  • NM_000875.5:c.1336A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291858.2:c.1336A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Growth delay due to insulin-like growth factor I resistance
Synonyms:
Insulin-like growth factor 1 resistance to; Somatomedin end-organ insensitivity to; Somatomedin-c resistance to; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010038; MedGen: C1849157; Orphanet: 73273; OMIM: 270450

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001277267Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

IGF1R variants associated with isolated single suture craniosynostosis.

Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML.

Am J Med Genet A. 2011 Jan;155A(1):91-7. doi: 10.1002/ajmg.a.33781.

PubMed [citation]
PMID:
21204214
PMCID:
PMC3059230

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001277267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 20, 2024