17-4014397-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015113.4(ZZEF1):c.8264G>C(p.Arg2755Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000153 in 1,614,086 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015113.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZZEF1 | ENST00000381638.7 | c.8264G>C | p.Arg2755Pro | missense_variant | Exon 50 of 55 | 1 | NM_015113.4 | ENSP00000371051.2 | ||
ZZEF1 | ENST00000572831.1 | n.*339G>C | non_coding_transcript_exon_variant | Exon 4 of 4 | 4 | ENSP00000459796.1 | ||||
ZZEF1 | ENST00000573536.1 | n.1377G>C | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 | |||||
ZZEF1 | ENST00000572831.1 | n.*339G>C | 3_prime_UTR_variant | Exon 4 of 4 | 4 | ENSP00000459796.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251480Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135912
GnomAD4 exome AF: 0.000167 AC: 244AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.000179 AC XY: 130AN XY: 727242
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8264G>C (p.R2755P) alteration is located in exon 50 (coding exon 50) of the ZZEF1 gene. This alteration results from a G to C substitution at nucleotide position 8264, causing the arginine (R) at amino acid position 2755 to be replaced by a proline (P). 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