5-75385948-T-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001379029.1(CERT1):āc.1371A>Gā(p.Glu457Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.228 in 1,586,116 control chromosomes in the GnomAD database, including 43,931 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001379029.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERT1 | NM_001379029.1 | c.1371A>G | p.Glu457Glu | synonymous_variant | Exon 13 of 17 | ENST00000643780.2 | NP_001365958.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.235 AC: 35691AN: 152068Hom.: 4351 Cov.: 32
GnomAD3 exomes AF: 0.240 AC: 56716AN: 236308Hom.: 7684 AF XY: 0.250 AC XY: 31995AN XY: 127988
GnomAD4 exome AF: 0.227 AC: 325513AN: 1433930Hom.: 39574 Cov.: 31 AF XY: 0.233 AC XY: 165722AN XY: 712372
GnomAD4 genome AF: 0.235 AC: 35724AN: 152186Hom.: 4357 Cov.: 32 AF XY: 0.240 AC XY: 17858AN XY: 74394
ClinVar
Submissions by phenotype
not provided Benign:2
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CERT1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at