rs3762001
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_032020.5(FUCA2):c.1111C>T(p.His371Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.213 in 1,612,406 control chromosomes in the GnomAD database, including 37,759 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_032020.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FUCA2 | NM_032020.5 | c.1111C>T | p.His371Tyr | missense_variant | 5/7 | ENST00000002165.11 | NP_114409.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FUCA2 | ENST00000002165.11 | c.1111C>T | p.His371Tyr | missense_variant | 5/7 | 1 | NM_032020.5 | ENSP00000002165.5 |
Frequencies
GnomAD3 genomes AF: 0.198 AC: 30086AN: 151788Hom.: 3153 Cov.: 31
GnomAD3 exomes AF: 0.207 AC: 51901AN: 251222Hom.: 5770 AF XY: 0.209 AC XY: 28434AN XY: 135774
GnomAD4 exome AF: 0.215 AC: 313796AN: 1460500Hom.: 34609 Cov.: 33 AF XY: 0.215 AC XY: 156320AN XY: 726552
GnomAD4 genome AF: 0.198 AC: 30085AN: 151906Hom.: 3150 Cov.: 31 AF XY: 0.199 AC XY: 14783AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at