chr22-28782326-G-T

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_173510.4(CCDC117):​c.464+1154G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 28)

Consequence

CCDC117
NM_173510.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.171
Variant links:
Genes affected
CCDC117 (HGNC:26599): (coiled-coil domain containing 117)

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.97).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
CCDC117NM_173510.4 linkuse as main transcriptc.464+1154G>T intron_variant ENST00000249064.9 NP_775781.1
CCDC117NM_001284263.2 linkuse as main transcriptc.410+1154G>T intron_variant NP_001271192.1
CCDC117NM_001284264.2 linkuse as main transcriptc.240-1182G>T intron_variant NP_001271193.1
CCDC117NM_001284265.1 linkuse as main transcriptc.68+1154G>T intron_variant NP_001271194.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
CCDC117ENST00000249064.9 linkuse as main transcriptc.464+1154G>T intron_variant 1 NM_173510.4 ENSP00000249064 P1Q8IWD4-1

Frequencies

GnomAD3 genomes
Cov.:
28
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
28

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
0.32
DANN
Benign
0.20

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs6005879; hg19: chr22-29178314; API