rs351730

Variant names:

• chr6-109189563-C-T
• rs351730
• ENST00000368966.10:n.321+1494C>T

Variant summary

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

The ENST00000368966.10(CCDC162P):​n.321+1494C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.235 in 152,082 control chromosomes in the GnomAD database, including 4,866 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 0.24 (4866 hom., cov: 32)
• Consequence: CCDC162P ENST00000368966.10 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.483
• Publications: 2 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 (NFE) allele frequency at 95% confidence interval = 0.304 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCDC162P	NR_152435.1	n.404+1494C>T		intron_variant	Intron 4 of 45

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CCDC162P	ENST00000368966.10	n.321+1494C>T		intron_variant	Intron 3 of 45	6
ENSG00000293470	ENST00000640771.1	n.402+1494C>T		intron_variant	Intron 4 of 22	5

Frequencies

GnomAD3 genomes AF: 0.235 AC: 35744 AN: 151964 Hom.: 4861 Cov.: 32

Gnomad AFR AF: 0.106

Gnomad AMI AF: 0.324

Gnomad AMR AF: 0.193

Gnomad ASJ AF: 0.289

Gnomad EAS AF: 0.228

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.356

Gnomad MID AF: 0.209

Gnomad NFE AF: 0.307

Gnomad OTH AF: 0.233

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

GnomAD4 genome AF: 0.235 AC: 35748 AN: 152082 Hom.: 4866 Cov.: 32 AF XY: 0.236 AC XY: 17514 AN XY: 74326

African (AFR) AF: 0.106 AC: 4378 AN: 41486

American (AMR) AF: 0.193 AC: 2942 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.289 AC: 1003 AN: 3470

East Asian (EAS) AF: 0.229 AC: 1184 AN: 5176

South Asian (SAS) AF: 0.152 AC: 734 AN: 4816

European-Finnish (FIN) AF: 0.356 AC: 3764 AN: 10562

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.307 AC: 20898 AN: 67978

Other (OTH) AF: 0.232 AC: 489 AN: 2108

Alfa AF: 0.263 Hom.: 771

Bravo AF: 0.218

Asia WGS AF: 0.186 AC: 647 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	0.90
DANN	Benign	0.50
PhyloP100		-0.48

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: rs351730; hg19: chr6-109510766;