chr11-65087972-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006782.4(ZFPL1):c.791G>A(p.Arg264Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000385 in 1,585,864 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R264W) has been classified as Uncertain significance.
Frequency
Consequence
NM_006782.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZFPL1 | NM_006782.4 | c.791G>A | p.Arg264Gln | missense_variant | 8/8 | ENST00000294258.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFPL1 | ENST00000294258.8 | c.791G>A | p.Arg264Gln | missense_variant | 8/8 | 1 | NM_006782.4 | P1 | |
TMEM262 | ENST00000528029.1 | n.1136C>T | non_coding_transcript_exon_variant | 1/1 | |||||
ZFPL1 | ENST00000650243.1 | n.2138G>A | non_coding_transcript_exon_variant | 7/7 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000492 AC: 11AN: 223612Hom.: 0 AF XY: 0.0000490 AC XY: 6AN XY: 122512
GnomAD4 exome AF: 0.0000307 AC: 44AN: 1433594Hom.: 0 Cov.: 31 AF XY: 0.0000350 AC XY: 25AN XY: 713570
GnomAD4 genome AF: 0.000112 AC: 17AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2023 | The c.791G>A (p.R264Q) alteration is located in exon 8 (coding exon 7) of the ZFPL1 gene. This alteration results from a G to A substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 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