6-167024804-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_007045.4(CEP43):āc.829G>Cā(p.Ala277Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0039 in 1,613,524 control chromosomes in the GnomAD database, including 182 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_007045.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP43 | NM_007045.4 | c.829G>C | p.Ala277Pro | missense_variant | 9/13 | ENST00000366847.9 | |
CEP43 | NM_194429.3 | c.769G>C | p.Ala257Pro | missense_variant | 8/12 | ||
CEP43 | NM_001278690.2 | c.688G>C | p.Ala230Pro | missense_variant | 7/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP43 | ENST00000366847.9 | c.829G>C | p.Ala277Pro | missense_variant | 9/13 | 1 | NM_007045.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0201 AC: 3055AN: 152106Hom.: 88 Cov.: 33
GnomAD3 exomes AF: 0.00543 AC: 1362AN: 250984Hom.: 37 AF XY: 0.00404 AC XY: 548AN XY: 135684
GnomAD4 exome AF: 0.00222 AC: 3238AN: 1461300Hom.: 94 Cov.: 30 AF XY: 0.00193 AC XY: 1400AN XY: 726968
GnomAD4 genome AF: 0.0200 AC: 3050AN: 152224Hom.: 88 Cov.: 33 AF XY: 0.0197 AC XY: 1464AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at