chr9-41132313-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001085457.2(ZNG1F):c.996G>C(p.Gln332His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000561 in 1,604,870 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001085457.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNG1F | NM_001085457.2 | c.996G>C | p.Gln332His | missense_variant | Exon 14 of 15 | ENST00000377391.8 | NP_001078926.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNG1F | ENST00000377391.8 | c.996G>C | p.Gln332His | missense_variant | Exon 14 of 15 | 1 | NM_001085457.2 | ENSP00000366608.4 | ||
ZNG1F | ENST00000456520.5 | c.939G>C | p.Gln313His | missense_variant | Exon 13 of 14 | 1 | ENSP00000401079.2 | |||
ZNG1F | ENST00000382436.7 | n.*541G>C | non_coding_transcript_exon_variant | Exon 15 of 16 | 1 | ENSP00000484049.1 | ||||
ZNG1F | ENST00000486387.6 | n.*1561G>C | non_coding_transcript_exon_variant | Exon 16 of 17 | 2 | ENSP00000480837.1 | ||||
ZNG1F | ENST00000382436.7 | n.*541G>C | 3_prime_UTR_variant | Exon 15 of 16 | 1 | ENSP00000484049.1 | ||||
ZNG1F | ENST00000486387.6 | n.*1561G>C | 3_prime_UTR_variant | Exon 16 of 17 | 2 | ENSP00000480837.1 |
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150294Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000127 AC: 3AN: 235458Hom.: 0 AF XY: 0.0000156 AC XY: 2AN XY: 127970
GnomAD4 exome AF: 0.00000550 AC: 8AN: 1454458Hom.: 1 Cov.: 31 AF XY: 0.00000691 AC XY: 5AN XY: 723586
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150412Hom.: 0 Cov.: 26 AF XY: 0.0000136 AC XY: 1AN XY: 73498
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.996G>C (p.Q332H) alteration is located in exon 14 (coding exon 14) of the CBWD6 gene. This alteration results from a G to C substitution at nucleotide position 996, causing the glutamine (Q) at amino acid position 332 to be replaced by a histidine (H). 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