chr1-40456999-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023070.3(ZFP69B):c.268C>A(p.Gln90Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023070.3 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 |
---|---|---|---|---|---|---|---|
ZFP69B | NM_023070.3 | c.268C>A | p.Gln90Lys | missense_variant | 3/5 | ENST00000361584.5 | |
ZFP69B | NM_001369565.1 | c.268C>A | p.Gln90Lys | missense_variant | 4/6 | ||
ZFP69B | XM_005271136.2 | c.268C>A | p.Gln90Lys | missense_variant | 4/6 | ||
ZFP69B | XM_017002147.2 | c.268C>A | p.Gln90Lys | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFP69B | ENST00000361584.5 | c.268C>A | p.Gln90Lys | missense_variant | 3/5 | 1 | NM_023070.3 | P1 | |
ZFP69B | ENST00000484445.5 | c.182C>A | p.Ala61Glu | missense_variant | 3/5 | 1 | |||
ZFP69B | ENST00000411995.6 | c.268C>A | p.Gln90Lys | missense_variant | 4/6 | 5 | P1 | ||
ZFP69B | ENST00000469416.1 | n.648C>A | non_coding_transcript_exon_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461686Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727158
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 24, 2024 | The c.268C>A (p.Q90K) alteration is located in exon 3 (coding exon 3) of the ZFP69B gene. This alteration results from a C to A substitution at nucleotide position 268, causing the glutamine (Q) at amino acid position 90 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
Publications
No publications associated with this variant yet.