chr12-107001328-A-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004075.5(CRY1):c.636T>A(p.Gly212=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,306 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G212G) has been classified as Benign.
Frequency
Consequence
NM_004075.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRY1 | NM_004075.5 | c.636T>A | p.Gly212= | synonymous_variant | 5/13 | ENST00000008527.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRY1 | ENST00000008527.10 | c.636T>A | p.Gly212= | synonymous_variant | 5/13 | 1 | NM_004075.5 | P1 | |
CRY1 | ENST00000546722.1 | n.129T>A | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
CRY1 | ENST00000552790.5 | n.1195T>A | non_coding_transcript_exon_variant | 7/13 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152038Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250782Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135594
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461306Hom.: 0 Cov.: 41 AF XY: 0.00000275 AC XY: 2AN XY: 726970
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74246
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at