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NM_001080432.3(FTO):c.608T>C (p.Leu203Ser) AND Lethal polymalformative syndrome, Boissel type

Germline classification:
Uncertain significance (1 submission)
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:
RCV001837050.1

Allele description [Variation Report for NM_001080432.3(FTO):c.608T>C (p.Leu203Ser)]

NM_001080432.3(FTO):c.608T>C (p.Leu203Ser)

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.608T>C (p.Leu203Ser)
HGVS:
  • NC_000016.10:g.53826348T>C
  • NG_012969.1:g.127386T>C
  • NM_001080432.3:c.608T>CMANE SELECT
  • NM_001363891.1:c.608T>C
  • NM_001363894.1:c.608T>C
  • NM_001363896.1:c.608T>C
  • NM_001363897.1:c.530T>C
  • NM_001363898.1:c.608T>C
  • NM_001363899.1:c.608T>C
  • NM_001363900.1:c.608T>C
  • NM_001363901.1:c.608T>C
  • NM_001363903.1:c.608T>C
  • NM_001363905.1:c.95T>C
  • NM_001363988.1:c.608T>C
  • NP_001073901.1:p.Leu203Ser
  • NP_001350820.1:p.Leu203Ser
  • NP_001350823.1:p.Leu203Ser
  • NP_001350825.1:p.Leu203Ser
  • NP_001350826.1:p.Leu177Ser
  • NP_001350827.1:p.Leu203Ser
  • NP_001350828.1:p.Leu203Ser
  • NP_001350829.1:p.Leu203Ser
  • NP_001350830.1:p.Leu203Ser
  • NP_001350832.1:p.Leu203Ser
  • NP_001350834.1:p.Leu32Ser
  • NP_001350917.1:p.Leu203Ser
  • NC_000016.9:g.53860260T>C
Protein change:
L177S
Links:
dbSNP: rs2151776141
NCBI 1000 Genomes Browser:
rs2151776141
Molecular consequence:
  • NM_001080432.3:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363891.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363894.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363896.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363897.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363898.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363899.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363900.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363901.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363903.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363905.1:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363988.1:c.608T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097342Suma Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceinheritedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Suma Genomics, SCV002097342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023