NM_001080432.3(FTO):c.545G>C (p.Gly182Ala) AND Lethal polymalformative syndrome, Boissel type

Germline classification:: Likely 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:: RCV001116237.4

Allele description [Variation Report for NM_001080432.3(FTO):c.545G>C (p.Gly182Ala)]

NM_001080432.3(FTO):c.545G>C (p.Gly182Ala)

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.545G>C (p.Gly182Ala)

HGVS:

NC_000016.10:g.53826285G>C
NG_012969.1:g.127323G>C
NM_001080432.3:c.545G>CMANE SELECT
NM_001363891.1:c.545G>C
NM_001363894.1:c.545G>C
NM_001363896.1:c.545G>C
NM_001363897.1:c.467G>C
NM_001363898.1:c.545G>C
NM_001363899.1:c.545G>C
NM_001363900.1:c.545G>C
NM_001363901.1:c.545G>C
NM_001363903.1:c.545G>C
NM_001363905.1:c.32G>C
NM_001363988.1:c.545G>C
NP_001073901.1:p.Gly182Ala
NP_001350820.1:p.Gly182Ala
NP_001350823.1:p.Gly182Ala
NP_001350825.1:p.Gly182Ala
NP_001350826.1:p.Gly156Ala
NP_001350827.1:p.Gly182Ala
NP_001350828.1:p.Gly182Ala
NP_001350829.1:p.Gly182Ala
NP_001350830.1:p.Gly182Ala
NP_001350832.1:p.Gly182Ala
NP_001350834.1:p.Gly11Ala
NP_001350917.1:p.Gly182Ala
NC_000016.9:g.53860197G>C
NM_001080432.2:c.545G>C

Protein change:

G11A

Links:

dbSNP: rs61743972

NCBI 1000 Genomes Browser:

rs61743972

Molecular consequence:

NM_001080432.3:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363891.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363894.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363896.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363897.1:c.467G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363898.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363899.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363900.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363901.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363903.1:c.545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363905.1:c.32G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363988.1:c.545G>C - 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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Tpgs2 tubulin polyglutamylase complex subunit 2 [Mus musculus]
Tpgs2 tubulin polyglutamylase complex subunit 2 [Mus musculus]
Gene ID:66648

Gene
66648[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001274288	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001274288

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001274288.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024

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