rs9383928

chr6-151575802-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_025059.4(CCDC170):c.1092+2311A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.263 in 151,808 control chromosomes in the GnomAD database, including 6,282 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 0.26 (6282 hom., cov: 27)
• Consequence: CCDC170 NM_025059.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.596

Genes affected

CCDC170 (HGNC:21177): (coiled-coil domain containing 170) The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.726 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CCDC170	NM_025059.4	c.1092+2311A>G		intron_variant		ENST00000239374.8
CCDC170	XM_011536147.3	c.1110+2311A>G		intron_variant
CCDC170	XM_011536148.3	c.1110+2311A>G		intron_variant
CCDC170	XM_047419372.1	c.1092+2311A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CCDC170	ENST00000239374.8	c.1092+2311A>G		intron_variant		1	NM_025059.4	P1

Frequencies

GnomAD3 genomes AF: 0.263 AC: 39904 AN: 151690 Hom.: 6274 Cov.: 27

Gnomad AFR AF: 0.335

Gnomad AMI AF: 0.297

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.269

Gnomad EAS AF: 0.746

Gnomad SAS AF: 0.348

Gnomad FIN AF: 0.226

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.270

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

GnomAD4 genome AF: 0.263 AC: 39947 AN: 151808 Hom.: 6282 Cov.: 27 AF XY: 0.272 AC XY: 20154 AN XY: 74180

Gnomad4 AFR AF: 0.335

Gnomad4 AMR AF: 0.297

Gnomad4 ASJ AF: 0.269

Gnomad4 EAS AF: 0.746

Gnomad4 SAS AF: 0.348

Gnomad4 FIN AF: 0.226

Gnomad4 NFE AF: 0.174

Gnomad4 OTH AF: 0.275

Alfa AF: 0.222 Hom.: 507

Bravo AF: 0.276

Asia WGS AF: 0.529 AC: 1840 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	4.5
Dann	Benign	0.43

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

Other links and lift over

dbSNP: rs9383928; hg19: chr6-151896937;