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NM_001080432.3(FTO):c.428A>G (p.Asn143Ser) AND Lethal polymalformative syndrome, Boissel type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 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:
RCV001121158.4

Allele description [Variation Report for NM_001080432.3(FTO):c.428A>G (p.Asn143Ser)]

NM_001080432.3(FTO):c.428A>G (p.Asn143Ser)

Gene:
FTO:FTO alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_001080432.3(FTO):c.428A>G (p.Asn143Ser)
HGVS:
  • NC_000016.10:g.53826168A>G
  • NG_012969.1:g.127206A>G
  • NM_001080432.3:c.428A>GMANE SELECT
  • NM_001363891.1:c.428A>G
  • NM_001363894.1:c.428A>G
  • NM_001363896.1:c.428A>G
  • NM_001363897.1:c.350A>G
  • NM_001363898.1:c.428A>G
  • NM_001363899.1:c.428A>G
  • NM_001363900.1:c.428A>G
  • NM_001363901.1:c.428A>G
  • NM_001363903.1:c.428A>G
  • NM_001363905.1:c.-86A>G
  • NM_001363988.1:c.428A>G
  • NP_001073901.1:p.Asn143Ser
  • NP_001350820.1:p.Asn143Ser
  • NP_001350823.1:p.Asn143Ser
  • NP_001350825.1:p.Asn143Ser
  • NP_001350826.1:p.Asn117Ser
  • NP_001350827.1:p.Asn143Ser
  • NP_001350828.1:p.Asn143Ser
  • NP_001350829.1:p.Asn143Ser
  • NP_001350830.1:p.Asn143Ser
  • NP_001350832.1:p.Asn143Ser
  • NP_001350917.1:p.Asn143Ser
  • NC_000016.9:g.53860080A>G
  • NC_000016.9:g.53860080A>G
  • NM_001080432.2:c.428A>G
Protein change:
N117S
Links:
dbSNP: rs147561986
NCBI 1000 Genomes Browser:
rs147561986
Molecular consequence:
  • NM_001363905.1:c.-86A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001080432.3:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363891.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363894.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363896.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363897.1:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363898.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363899.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363900.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363901.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363903.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363988.1:c.428A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lethal polymalformative syndrome, Boissel type
Synonyms:
Growth retardation, developmental delay, coarse facies, and early death; GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
Identifiers:
MONDO: MONDO:0013050; MedGen: C2752001; Orphanet: 210144; OMIM: 612938

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001279716Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Association study of rare nonsynonymous variants of FTO in bipolar disorder.

Curtis JA, O'Brien NL, Curtis D, Fiorentino A, McQuillin A.

Psychiatr Genet. 2016 Jun;26(3):140-1. doi: 10.1097/YPG.0000000000000124. No abstract available.

PubMed [citation]
PMID:
27105045
PMCID:
PMC4843958

Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Meyre D, Proulx K, Kawagoe-Takaki H, Vatin V, Gutiérrez-Aguilar R, Lyon D, Ma M, Choquet H, Horber F, Van Hul W, Van Gaal L, Balkau B, Visvikis-Siest S, Pattou F, Farooqi IS, Saudek V, O'Rahilly S, Froguel P, Sedgwick B, Yeo GS.

Diabetes. 2010 Jan;59(1):311-8. doi: 10.2337/db09-0703. Epub 2009 Oct 15.

PubMed [citation]
PMID:
19833892
PMCID:
PMC2797938

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001279716.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Feb 20, 2024