rs17127223
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001080414.4(CCDC88C):c.2432C>A(p.Ala811Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00269 in 1,609,168 control chromosomes in the GnomAD database, including 90 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 (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001080414.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC88C | NM_001080414.4 | c.2432C>A | p.Ala811Glu | missense_variant | 15/30 | ENST00000389857.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC88C | ENST00000389857.11 | c.2432C>A | p.Ala811Glu | missense_variant | 15/30 | 5 | NM_001080414.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0142 AC: 2159AN: 152110Hom.: 43 Cov.: 32
GnomAD3 exomes AF: 0.00372 AC: 903AN: 242954Hom.: 25 AF XY: 0.00292 AC XY: 387AN XY: 132576
GnomAD4 exome AF: 0.00147 AC: 2147AN: 1456940Hom.: 46 Cov.: 32 AF XY: 0.00127 AC XY: 918AN XY: 725012
GnomAD4 genome ? AF: 0.0143 AC: 2183AN: 152228Hom.: 44 Cov.: 32 AF XY: 0.0137 AC XY: 1023AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 08, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at