17-47970290-T-C

Variant names:

• chr17-47970290-T-C
• rs2597167
• ENST00000579632.5:c.-30-323T>C

Variant summary

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

The ENST00000579632.5(CDK5RAP3):​c.-30-323T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.935 in 152,224 control chromosomes in the GnomAD database, including 66,897 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 0.94 (66897 hom., cov: 32)
• Consequence: CDK5RAP3 ENST00000579632.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.482
• Publications: 5 publications found

Genes affected

CDK5RAP3 (HGNC:18673): (CDK5 regulatory subunit associated protein 3) This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

ENSG00000263798 (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 (EAS) allele frequency at 95% confidence interval = 0.974 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000579632.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CDK5RAP3	NM_001278197.2		c.-353T>C		upstream_gene	N/A	NP_001265126.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CDK5RAP3	ENST00000579632.5	TSL:4	c.-30-323T>C		intron	N/A	ENSP00000464542.1
	ENSG00000263798	ENST00000582262.1	TSL:4	n.147-323T>C		intron	N/A
	ENSG00000263798	ENST00000641877.1		n.796-323T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.935 AC: 142295 AN: 152106 Hom.: 66856 Cov.: 32

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.988

Gnomad AMR AF: 0.969

Gnomad ASJ AF: 0.966

Gnomad EAS AF: 0.982

Gnomad SAS AF: 0.977

Gnomad FIN AF: 0.945

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.980

Gnomad OTH AF: 0.955

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

GnomAD4 genome AF: 0.935 AC: 142392 AN: 152224 Hom.: 66897 Cov.: 32 AF XY: 0.935 AC XY: 69604 AN XY: 74432

African (AFR) AF: 0.833 AC: 34566 AN: 41516

American (AMR) AF: 0.969 AC: 14801 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.966 AC: 3351 AN: 3470

East Asian (EAS) AF: 0.982 AC: 5075 AN: 5168

South Asian (SAS) AF: 0.977 AC: 4718 AN: 4828

European-Finnish (FIN) AF: 0.945 AC: 10028 AN: 10614

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.980 AC: 66659 AN: 68030

Other (OTH) AF: 0.953 AC: 2014 AN: 2114

Alfa AF: 0.967 Hom.: 120796

Bravo AF: 0.932

Asia WGS AF: 0.956 AC: 3324 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.0
DANN	Benign	0.58
PhyloP100		-0.48
PromoterAI		0.045	Neutral

Splicing

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

Other links and lift over

dbSNP: rs2597167; hg19: chr17-46047656;