22-17530213-C-T

Variant names:

• chr22-17530213-C-T
• rs174330
• NM_001290047.2:c.1108+5942C>T

Variant summary

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

The NM_001290047.2(CECR2):​c.1108+5942C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 150,068 control chromosomes in the GnomAD database, including 3,349 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 0.21 (3349 hom., cov: 29)
• Consequence: CECR2 NM_001290047.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.236
• Publications: 1 publications found

Genes affected

CECR2 (HGNC:1840): (CECR2 histone acetyl-lysine reader) This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ENSG00000286195 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.288 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001290047.2. 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
	CECR2	NM_001290047.2	MANE Select	c.1108+5942C>T		intron	N/A	NP_001276976.1
	CECR2	NM_001290046.2		c.619+5942C>T		intron	N/A	NP_001276975.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CECR2	ENST00000262608.13	TSL:1 MANE Select	c.1108+5942C>T		intron	N/A	ENSP00000262608.11
	CECR2	ENST00000400585.7	TSL:1	c.619+5942C>T		intron	N/A	ENSP00000383428.2
	CECR2	ENST00000342247.10	TSL:5	c.1165-4531C>T		intron	N/A	ENSP00000341219.6

Frequencies

GnomAD3 genomes AF: 0.206 AC: 30879 AN: 149966 Hom.: 3345 Cov.: 29

Gnomad AFR AF: 0.162

Gnomad AMI AF: 0.180

Gnomad AMR AF: 0.294

Gnomad ASJ AF: 0.276

Gnomad EAS AF: 0.155

Gnomad SAS AF: 0.240

Gnomad FIN AF: 0.158

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.217

Gnomad OTH AF: 0.225

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

GnomAD4 genome AF: 0.206 AC: 30891 AN: 150068 Hom.: 3349 Cov.: 29 AF XY: 0.205 AC XY: 14983 AN XY: 73076

African (AFR) AF: 0.162 AC: 6589 AN: 40732

American (AMR) AF: 0.295 AC: 4449 AN: 15058

Ashkenazi Jewish (ASJ) AF: 0.276 AC: 956 AN: 3466

East Asian (EAS) AF: 0.155 AC: 791 AN: 5118

South Asian (SAS) AF: 0.238 AC: 1128 AN: 4740

European-Finnish (FIN) AF: 0.158 AC: 1582 AN: 9990

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

European-Non Finnish (NFE) AF: 0.217 AC: 14700 AN: 67696

Other (OTH) AF: 0.223 AC: 463 AN: 2072

Alfa AF: 0.214 Hom.: 14946

Bravo AF: 0.215

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.4
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs174330; hg19: chr22-18009909;