19-9838573-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006221.4(PIN1):āc.196C>Gā(p.Gln66Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000282 in 1,418,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006221.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PIN1 | NM_006221.4 | c.196C>G | p.Gln66Glu | missense_variant | 2/4 | ENST00000247970.9 | NP_006212.1 | |
PIN1 | XM_011528068.3 | c.211C>G | p.Gln71Glu | missense_variant | 4/6 | XP_011526370.1 | ||
PIN1 | NR_038422.3 | n.276C>G | non_coding_transcript_exon_variant | 3/5 | ||||
PIN1 | NR_038830.2 | n.276C>G | non_coding_transcript_exon_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PIN1 | ENST00000247970.9 | c.196C>G | p.Gln66Glu | missense_variant | 2/4 | 1 | NM_006221.4 | ENSP00000247970.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000282 AC: 4AN: 1418742Hom.: 0 Cov.: 31 AF XY: 0.00000428 AC XY: 3AN XY: 701512
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2024 | The c.196C>G (p.Q66E) alteration is located in exon 2 (coding exon 2) of the PIN1 gene. This alteration results from a C to G substitution at nucleotide position 196, causing the glutamine (Q) at amino acid position 66 to be replaced by a glutamic acid (E). 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.