chr19-48750675-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001384359.1(FUT1):c.607C>T(p.Arg203Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,056 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R203H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001384359.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT1 | NM_001384359.1 | c.607C>T | p.Arg203Cys | missense_variant | 2/2 | ENST00000645652.2 | |
FUT1 | NM_000148.4 | c.607C>T | p.Arg203Cys | missense_variant | 4/4 | ||
FUT1 | NM_001329877.1 | c.607C>T | p.Arg203Cys | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT1 | ENST00000645652.2 | c.607C>T | p.Arg203Cys | missense_variant | 2/2 | NM_001384359.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000641 AC: 16AN: 249722Hom.: 0 AF XY: 0.0000812 AC XY: 11AN XY: 135398
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1460728Hom.: 0 Cov.: 33 AF XY: 0.0000234 AC XY: 17AN XY: 726696
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 30, 2022 | The c.607C>T (p.R203C) alteration is located in exon 4 (coding exon 1) of the FUT1 gene. This alteration results from a C to T substitution at nucleotide position 607, causing the arginine (R) at amino acid position 203 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at