chr4-144849015-G-A

Variant names:

• chr4-144849015-G-A
• rs12651029
• ENST00000649263.1:n.327+215557C>T

Variant summary

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

The ENST00000649263.1(ENSG00000285713):​n.327+215557C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.218 in 149,968 control chromosomes in the GnomAD database, including 4,235 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 0.22 (4235 hom., cov: 27)
• Consequence: ENSG00000285713 ENST00000649263.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.366
• Publications: 5 publications found

Genes affected

ENSG00000285713 (HGNC:):

ANAPC10 (HGNC:24077): (anaphase promoting complex subunit 10) ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.285 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000649263.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000285713	ENST00000649263.1		n.327+215557C>T		intron	N/A	ENSP00000497507.1	A0A3B3ISY7
	ANAPC10	ENST00000641499.1		n.*55-16097C>T		intron	N/A	ENSP00000493135.1	A0A286YEY6
	ENSG00000285783	ENST00000650526.1		n.93+21846C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.218 AC: 32646 AN: 149858 Hom.: 4231 Cov.: 27

Gnomad AFR AF: 0.0788

Gnomad AMI AF: 0.152

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.311

Gnomad EAS AF: 0.254

Gnomad SAS AF: 0.182

Gnomad FIN AF: 0.279

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.289

Gnomad OTH AF: 0.231

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

GnomAD4 genome AF: 0.218 AC: 32644 AN: 149968 Hom.: 4235 Cov.: 27 AF XY: 0.218 AC XY: 15923 AN XY: 73106

African (AFR) AF: 0.0786 AC: 3231 AN: 41084

American (AMR) AF: 0.218 AC: 3274 AN: 15042

Ashkenazi Jewish (ASJ) AF: 0.311 AC: 1077 AN: 3460

East Asian (EAS) AF: 0.254 AC: 1285 AN: 5060

South Asian (SAS) AF: 0.181 AC: 859 AN: 4734

European-Finnish (FIN) AF: 0.279 AC: 2770 AN: 9934

Middle Eastern (MID) AF: 0.243 AC: 70 AN: 288

European-Non Finnish (NFE) AF: 0.289 AC: 19454 AN: 67372

Other (OTH) AF: 0.233 AC: 486 AN: 2088

Alfa AF: 0.265 Hom.: 24907

Bravo AF: 0.210

Asia WGS AF: 0.213 AC: 740 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.7
DANN	Benign	0.52
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs12651029; hg19: chr4-145770167;