chr12-28452517-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_018318.5(CCDC91):c.964G>A(p.Val322Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000542 in 1,585,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018318.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC91 | NM_018318.5 | c.964G>A | p.Val322Ile | missense_variant | 11/13 | ENST00000536442.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC91 | ENST00000536442.6 | c.964G>A | p.Val322Ile | missense_variant | 11/13 | 5 | NM_018318.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000924 AC: 14AN: 151490Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000102 AC: 24AN: 234850Hom.: 0 AF XY: 0.000110 AC XY: 14AN XY: 127614
GnomAD4 exome AF: 0.0000502 AC: 72AN: 1433774Hom.: 0 Cov.: 29 AF XY: 0.0000519 AC XY: 37AN XY: 713420
GnomAD4 genome AF: 0.0000923 AC: 14AN: 151608Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74088
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at