chr6-109198719-A-G

Variant names:

• chr6-109198719-A-G
• rs7767017
• ENST00000368966.10:n.784+207A>G

Variant summary

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

The ENST00000368966.10(CCDC162P):​n.784+207A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.269 in 152,052 control chromosomes in the GnomAD database, including 8,479 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 0.27 (8479 hom., cov: 32)
• Consequence: CCDC162P ENST00000368966.10 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.102
• Publications: 8 publications found

Genes affected

CCDC162P (HGNC:21565): (coiled-coil domain containing 162, pseudogene) This gene is the ortholog of the mouse coiled-coil domain containing 162 gene. This locus is transcribed, but is represented as a unitary pseudogene because there are multiple changes in the coding sequence, including multiple changes that result in premature stop codons, relative to the mouse coding sequence. Transcripts from this locus are expected to encode truncated proteins, and may be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Sep 2018]

ENSG00000293470 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.578 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCDC162P	NR_152435.1	n.867+207A>G		intron_variant	Intron 7 of 45

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CCDC162P	ENST00000368966.10	n.784+207A>G		intron_variant	Intron 6 of 45	6
ENSG00000293470	ENST00000640771.1	n.865+207A>G		intron_variant	Intron 7 of 22	5
ENSG00000293470	ENST00000727369.1	n.694+207A>G		intron_variant	Intron 3 of 3
ENSG00000293470	ENST00000727370.1	n.*95A>G		downstream_gene_variant

Frequencies

GnomAD3 genomes AF: 0.268 AC: 40773 AN: 151934 Hom.: 8461 Cov.: 32

Gnomad AFR AF: 0.584

Gnomad AMI AF: 0.0626

Gnomad AMR AF: 0.146

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.227

Gnomad SAS AF: 0.178

Gnomad FIN AF: 0.181

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.137

Gnomad OTH AF: 0.231

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

GnomAD4 genome AF: 0.269 AC: 40835 AN: 152052 Hom.: 8479 Cov.: 32 AF XY: 0.268 AC XY: 19922 AN XY: 74336

African (AFR) AF: 0.584 AC: 24217 AN: 41436

American (AMR) AF: 0.145 AC: 2220 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.156 AC: 541 AN: 3470

East Asian (EAS) AF: 0.226 AC: 1172 AN: 5178

South Asian (SAS) AF: 0.178 AC: 859 AN: 4822

European-Finnish (FIN) AF: 0.181 AC: 1908 AN: 10562

Middle Eastern (MID) AF: 0.255 AC: 75 AN: 294

European-Non Finnish (NFE) AF: 0.137 AC: 9295 AN: 68004

Other (OTH) AF: 0.232 AC: 491 AN: 2112

Alfa AF: 0.178 Hom.: 4512

Bravo AF: 0.278

Asia WGS AF: 0.228 AC: 792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.7
DANN	Benign	0.54
PhyloP100		0.10

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: rs7767017; hg19: chr6-109519922;