18-32975482-C-A

Variant names:

• chr18-32975482-C-A
• rs4436849
• NM_001105528.4:c.2389-801G>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001105528.4(CCDC178):​c.2389-801G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.799 in 152,108 control chromosomes in the GnomAD database, including 54,052 homozygotes. 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: 𝑓 0.80 (54052 hom., cov: 32)
• Consequence: CCDC178 NM_001105528.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.202
• Publications: 3 publications found

Genes affected

CCDC178 (HGNC:29588): (coiled-coil domain containing 178) Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.973 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001105528.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC178	NM_001105528.4	MANE Select	c.2389-801G>T		intron	N/A	NP_001098998.1	Q5BJE1-1
	CCDC178	NM_001308126.3		c.2461-801G>T		intron	N/A	NP_001295055.1	F8W7A7
	CCDC178	NM_001371120.1		c.2461-801G>T		intron	N/A	NP_001358049.1	F8W7A7

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC178	ENST00000383096.8	TSL:5 MANE Select	c.2389-801G>T		intron	N/A	ENSP00000372576.3	Q5BJE1-1
	CCDC178	ENST00000583930.5	TSL:1	c.2461-801G>T		intron	N/A	ENSP00000463254.1	F8W7A7
	CCDC178	ENST00000403303.5	TSL:1	c.2389-801G>T		intron	N/A	ENSP00000385591.1	Q5BJE1-1

Frequencies

GnomAD3 genomes AF: 0.800 AC: 121557 AN: 151990 Hom.: 54056 Cov.: 32

Gnomad AFR AF: 0.370

Gnomad AMI AF: 0.997

Gnomad AMR AF: 0.901

Gnomad ASJ AF: 0.988

Gnomad EAS AF: 0.936

Gnomad SAS AF: 0.939

Gnomad FIN AF: 0.955

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.979

Gnomad OTH AF: 0.857

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.799 AC: 121572 AN: 152108 Hom.: 54052 Cov.: 32 AF XY: 0.803 AC XY: 59723 AN XY: 74384

African (AFR) AF: 0.369 AC: 15296 AN: 41424

American (AMR) AF: 0.901 AC: 13749 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.988 AC: 3428 AN: 3468

East Asian (EAS) AF: 0.936 AC: 4841 AN: 5172

South Asian (SAS) AF: 0.940 AC: 4542 AN: 4832

European-Finnish (FIN) AF: 0.955 AC: 10133 AN: 10612

Middle Eastern (MID) AF: 0.922 AC: 271 AN: 294

European-Non Finnish (NFE) AF: 0.979 AC: 66594 AN: 68016

Other (OTH) AF: 0.857 AC: 1809 AN: 2112

Alfa AF: 0.934 Hom.: 77130

Bravo AF: 0.777

Asia WGS AF: 0.883 AC: 3069 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.49
PhyloP100		0.20
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs4436849; hg19: chr18-30555446;