chr16-53704045-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001363894.1(FTO):c.-140T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000449 in 917,394 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001363894.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTO | NM_001363894.1 | c.-140T>C | 5_prime_UTR_variant | Exon 1 of 10 | NP_001350823.1 | |||
FTO | NM_001363891.1 | c.-140T>C | 5_prime_UTR_variant | Exon 1 of 9 | NP_001350820.1 | |||
FTO | NM_001363896.1 | c.-140T>C | 5_prime_UTR_variant | Exon 1 of 9 | NP_001350825.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FTO | ENST00000636218 | c.-140T>C | 5_prime_UTR_variant | Exon 1 of 9 | 5 | ENSP00000489641.1 | ||||
FTO | ENST00000636491.1 | c.-68+2224T>C | intron_variant | Intron 1 of 9 | 5 | ENSP00000490047.1 | ||||
FTO | ENST00000637001.1 | c.-140T>C | upstream_gene_variant | 5 | ENSP00000489936.1 |
Frequencies
GnomAD3 genomes AF: 0.00155 AC: 236AN: 152148Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000230 AC: 176AN: 765126Hom.: 1 Cov.: 10 AF XY: 0.000201 AC XY: 80AN XY: 398738
GnomAD4 genome AF: 0.00155 AC: 236AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.00153 AC XY: 114AN XY: 74448
ClinVar
Submissions by phenotype
Lethal polymalformative syndrome, Boissel type Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at