rs795734
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_011533624.4(SUMF1):āc.1269T>Gā(p.Phe423Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.358 in 152,072 control chromosomes in the GnomAD database, including 10,125 homozygotes. In-silico tool predicts a benign outcome for this variant. 4/4 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XM_011533624.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SUMF1 | XM_011533624.4 | c.1269T>G | p.Phe423Leu | missense_variant | 10/10 | ||
SUMF1 | XM_017006252.3 | c.1209T>G | p.Phe403Leu | missense_variant | 9/9 | ||
SUMF1 | XM_017006253.2 | c.1194T>G | p.Phe398Leu | missense_variant | 9/9 | ||
SUMF1 | XM_017006254.3 | c.1191+553T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SUMF1 | ENST00000448413.5 | c.1191+553T>G | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.358 AC: 54420AN: 151952Hom.: 10085 Cov.: 32
GnomAD4 genome ? AF: 0.358 AC: 54513AN: 152072Hom.: 10125 Cov.: 32 AF XY: 0.360 AC XY: 26735AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at