chr22-38075035-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012407.4(PICK1):c.1151A>G(p.Glu384Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,032 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012407.4 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 |
---|---|---|---|---|---|---|---|
PICK1 | NM_012407.4 | c.1151A>G | p.Glu384Gly | missense_variant | 13/13 | ENST00000356976.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PICK1 | ENST00000356976.8 | c.1151A>G | p.Glu384Gly | missense_variant | 13/13 | 1 | NM_012407.4 | P1 | |
PICK1 | ENST00000404072.7 | c.1151A>G | p.Glu384Gly | missense_variant | 13/13 | 2 | P1 | ||
PICK1 | ENST00000484021.5 | n.1873A>G | non_coding_transcript_exon_variant | 12/12 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461032Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726774
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.1151A>G (p.E384G) alteration is located in exon 13 (coding exon 12) of the PICK1 gene. This alteration results from a A to G substitution at nucleotide position 1151, causing the glutamic acid (E) at amino acid position 384 to be replaced by a glycine (G). 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.