X-47624353-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001145252.3(CFP):c.1332G>A(p.Gly444Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000166 in 1,207,111 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001145252.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFP | NM_001145252.3 | c.1332G>A | p.Gly444Gly | synonymous_variant | 9/9 | ENST00000396992.8 | NP_001138724.1 | |
CFP | NM_002621.2 | c.1332G>A | p.Gly444Gly | synonymous_variant | 10/10 | NP_002612.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFP | ENST00000396992.8 | c.1332G>A | p.Gly444Gly | synonymous_variant | 9/9 | 1 | NM_001145252.3 | ENSP00000380189.3 |
Frequencies
GnomAD3 genomes AF: 0.00000914 AC: 1AN: 109452Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 31700
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097659Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 363019
GnomAD4 genome AF: 0.00000914 AC: 1AN: 109452Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 31700
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 24, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at