2-111778702-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_022662.4(ANAPC1):c.5358G>A(p.Met1786Ile) variant causes a missense change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022662.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANAPC1 | ENST00000341068.8 | c.5358G>A | p.Met1786Ile | missense_variant | Exon 45 of 48 | 1 | NM_022662.4 | ENSP00000339109.3 | ||
ANAPC1 | ENST00000427997.5 | c.3960G>A | p.Met1320Ile | missense_variant | Exon 34 of 37 | 1 | ENSP00000396695.1 | |||
ANAPC1 | ENST00000462785.1 | n.2052G>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 | |||||
ANAPC1 | ENST00000643447.1 | n.384G>A | non_coding_transcript_exon_variant | Exon 5 of 12 | ENSP00000494863.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 139520Hom.: 0 Cov.: 22 FAILED QC
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 245522Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132732
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000117 AC: 17AN: 1458050Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 725428
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 139520Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 67072
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5358G>A (p.M1786I) alteration is located in exon 45 (coding exon 44) of the ANAPC1 gene. This alteration results from a G to A substitution at nucleotide position 5358, causing the methionine (M) at amino acid position 1786 to be replaced by an isoleucine (I). 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