chr17-40293996-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001254.4(CDC6):c.883G>A(p.Asp295Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0198 in 1,613,948 control chromosomes in the GnomAD database, including 364 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001254.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDC6 | NM_001254.4 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 12 | ENST00000209728.9 | NP_001245.1 | |
CDC6 | XM_011525541.3 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 13 | XP_011523843.1 | ||
CDC6 | XM_011525542.2 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 13 | XP_011523844.1 | ||
CDC6 | XM_047437207.1 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 12 | XP_047293163.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDC6 | ENST00000209728.9 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 12 | 1 | NM_001254.4 | ENSP00000209728.4 | ||
CDC6 | ENST00000649662.1 | c.883G>A | p.Asp295Asn | missense_variant | Exon 6 of 12 | ENSP00000497345.1 | ||||
CDC6 | ENST00000582402.1 | n.203-1360G>A | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0152 AC: 2311AN: 152200Hom.: 30 Cov.: 32
GnomAD3 exomes AF: 0.0138 AC: 3471AN: 251476Hom.: 25 AF XY: 0.0138 AC XY: 1870AN XY: 135914
GnomAD4 exome AF: 0.0203 AC: 29654AN: 1461630Hom.: 334 Cov.: 32 AF XY: 0.0199 AC XY: 14476AN XY: 727128
GnomAD4 genome AF: 0.0152 AC: 2310AN: 152318Hom.: 30 Cov.: 32 AF XY: 0.0154 AC XY: 1150AN XY: 74494
ClinVar
Submissions by phenotype
not specified Benign:4
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not provided Benign:3
CDC6: BS1, BS2 -
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Meier-Gorlin syndrome 5 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at