rs1048118
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001145252.3(CFP):c.1284C>T(p.Asn428Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.238 in 1,206,924 control chromosomes in the GnomAD database, including 23,912 homozygotes. There are 94,035 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001145252.3 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 |
---|---|---|---|---|---|---|---|---|
CFP | NM_001145252.3 | c.1284C>T | p.Asn428Asn | synonymous_variant | Exon 9 of 9 | ENST00000396992.8 | NP_001138724.1 | |
CFP | NM_002621.2 | c.1284C>T | p.Asn428Asn | synonymous_variant | Exon 10 of 10 | NP_002612.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.230 AC: 25063AN: 109172Hom.: 2211 Cov.: 21 AF XY: 0.221 AC XY: 6954AN XY: 31492
GnomAD3 exomes AF: 0.223 AC: 40806AN: 182837Hom.: 3218 AF XY: 0.224 AC XY: 15097AN XY: 67303
GnomAD4 exome AF: 0.239 AC: 262418AN: 1097704Hom.: 21698 Cov.: 32 AF XY: 0.240 AC XY: 87072AN XY: 363124
GnomAD4 genome AF: 0.230 AC: 25074AN: 109220Hom.: 2214 Cov.: 21 AF XY: 0.221 AC XY: 6963AN XY: 31550
ClinVar
Submissions by phenotype
not specified Benign:3
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF -
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at