9-123412-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_018491.5(ZNG1A):c.859G>A(p.Glu287Lys) variant causes a missense change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018491.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNG1A | ENST00000356521.9 | c.859G>A | p.Glu287Lys | missense_variant | Exon 12 of 15 | 1 | NM_018491.5 | ENSP00000348915.4 | ||
ZNG1A | ENST00000465014.6 | n.*457G>A | non_coding_transcript_exon_variant | Exon 12 of 15 | 2 | ENSP00000482298.1 | ||||
ZNG1A | ENST00000612045.4 | n.*580G>A | non_coding_transcript_exon_variant | Exon 13 of 16 | 1 | ENSP00000477749.1 | ||||
ZNG1A | ENST00000616944.4 | n.*404G>A | non_coding_transcript_exon_variant | Exon 13 of 14 | 2 | ENSP00000482821.1 | ||||
ZNG1A | ENST00000619157.4 | n.*404G>A | non_coding_transcript_exon_variant | Exon 9 of 12 | 5 | ENSP00000483746.1 | ||||
ZNG1A | ENST00000465014.6 | n.*457G>A | 3_prime_UTR_variant | Exon 12 of 15 | 2 | ENSP00000482298.1 | ||||
ZNG1A | ENST00000612045.4 | n.*580G>A | 3_prime_UTR_variant | Exon 13 of 16 | 1 | ENSP00000477749.1 | ||||
ZNG1A | ENST00000616944.4 | n.*404G>A | 3_prime_UTR_variant | Exon 13 of 14 | 2 | ENSP00000482821.1 | ||||
ZNG1A | ENST00000619157.4 | n.*404G>A | 3_prime_UTR_variant | Exon 9 of 12 | 5 | ENSP00000483746.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 150606Hom.: 0 Cov.: 25 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000454 AC: 6AN: 1322362Hom.: 0 Cov.: 23 AF XY: 0.00000755 AC XY: 5AN XY: 662638
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000133 AC: 2AN: 150606Hom.: 0 Cov.: 25 AF XY: 0.0000272 AC XY: 2AN XY: 73416
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.859G>A (p.E287K) alteration is located in exon 12 (coding exon 12) of the CBWD1 gene. This alteration results from a G to A substitution at nucleotide position 859, causing the glutamic acid (E) at amino acid position 287 to be replaced by a lysine (K). 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