X-101148141-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001386188.2(CENPI):c.2074G>A(p.Ala692Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000111 in 1,082,393 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001386188.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CENPI | NM_001386188.2 | c.2074G>A | p.Ala692Thr | missense_variant | 20/22 | ENST00000682095.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CENPI | ENST00000682095.1 | c.2074G>A | p.Ala692Thr | missense_variant | 20/22 | NM_001386188.2 | P2 | ||
CENPI | ENST00000372927.5 | c.2074G>A | p.Ala692Thr | missense_variant | 19/21 | 5 | P2 | ||
CENPI | ENST00000684367.1 | c.2074G>A | p.Ala692Thr | missense_variant | 21/23 | P2 | |||
CENPI | ENST00000423383.3 | c.2074G>A | p.Ala692Thr | missense_variant | 20/21 | 5 | A2 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000301 AC: 5AN: 166194Hom.: 0 AF XY: 0.0000362 AC XY: 2AN XY: 55188
GnomAD4 exome AF: 0.0000111 AC: 12AN: 1082393Hom.: 0 Cov.: 29 AF XY: 0.0000170 AC XY: 6AN XY: 352637
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 13, 2023 | The c.2074G>A (p.A692T) alteration is located in exon 19 (coding exon 18) of the CENPI gene. This alteration results from a G to A substitution at nucleotide position 2074, causing the alanine (A) at amino acid position 692 to be replaced by a threonine (T). 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