chr1-53866267-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018982.5(YIPF1):c.764G>A(p.Arg255Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000743 in 1,614,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018982.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
YIPF1 | NM_018982.5 | c.764G>A | p.Arg255Gln | missense_variant | Exon 9 of 11 | ENST00000072644.7 | NP_061855.1 | |
YIPF1 | NR_036639.2 | n.1118G>A | non_coding_transcript_exon_variant | Exon 9 of 12 | ||||
YIPF1 | NR_036640.2 | n.898G>A | non_coding_transcript_exon_variant | Exon 8 of 11 | ||||
YIPF1 | NR_135075.2 | n.818G>A | non_coding_transcript_exon_variant | Exon 7 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251464Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135904
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727230
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.764G>A (p.R255Q) alteration is located in exon 9 (coding exon 7) of the YIPF1 gene. This alteration results from a G to A substitution at nucleotide position 764, causing the arginine (R) at amino acid position 255 to be replaced by a glutamine (Q). 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