chr10-16764458-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012425.4(RSU1):c.213T>A(p.Phe71Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000186 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012425.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RSU1 | NM_012425.4 | c.213T>A | p.Phe71Leu | missense_variant | Exon 4 of 9 | ENST00000345264.10 | NP_036557.1 | |
RSU1 | NM_152724.3 | c.54T>A | p.Phe18Leu | missense_variant | Exon 3 of 8 | NP_689937.2 | ||
RSU1 | XM_047425617.1 | c.213T>A | p.Phe71Leu | missense_variant | Exon 3 of 7 | XP_047281573.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251298Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135830
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461738Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 727172
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.213T>A (p.F71L) alteration is located in exon 4 (coding exon 3) of the RSU1 gene. This alteration results from a T to A substitution at nucleotide position 213, causing the phenylalanine (F) at amino acid position 71 to be replaced by a leucine (L). 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