11-101962056-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020802.4(CEP126):c.1021G>C(p.Glu341Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,612,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020802.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP126 | NM_020802.4 | c.1021G>C | p.Glu341Gln | missense_variant | 6/11 | ENST00000263468.13 | |
CEP126 | NM_001363543.2 | c.424G>C | p.Glu142Gln | missense_variant | 7/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP126 | ENST00000263468.13 | c.1021G>C | p.Glu341Gln | missense_variant | 6/11 | 1 | NM_020802.4 | P1 | |
CEP126 | ENST00000532529.1 | c.*517G>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | 5 | ||||
CEP126 | ENST00000670091.1 | c.*1064G>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/12 | |||||
CEP126 | ENST00000670318.1 | c.*533G>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/12 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249724Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135178
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1460884Hom.: 0 Cov.: 33 AF XY: 0.0000124 AC XY: 9AN XY: 726718
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 23, 2021 | The c.1021G>C (p.E341Q) alteration is located in exon 6 (coding exon 6) of the CEP126 gene. This alteration results from a G to C substitution at nucleotide position 1021, causing the glutamic acid (E) at amino acid position 341 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at