chr2-52805408-A-G

Variant names:

• chr2-52805408-A-G
• rs10496009
• ENST00000421575.7:n.240-72631T>C

Variant summary

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

The ENST00000421575.7(ENSG00000228033):​n.240-72631T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0539 in 152,158 control chromosomes in the GnomAD database, including 503 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 0.054 (503 hom., cov: 32)
• Consequence: ENSG00000228033 ENST00000421575.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.15
• Publications: 1 publications found

Genes affected

ENSG00000228033 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.204 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105369165	NR_187747.1	n.172-78590T>C		intron_variant	Intron 3 of 4
LOC105369165	NR_187748.1	n.252+5069T>C		intron_variant	Intron 4 of 6
LOC105369165	NR_187749.1	n.221-78590T>C		intron_variant	Intron 3 of 5
LOC105369165	NR_187750.1	n.172-10552T>C		intron_variant	Intron 3 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000228033	ENST00000421575.7	n.240-72631T>C		intron_variant	Intron 3 of 5	5
ENSG00000228033	ENST00000443237.2	n.185-78590T>C		intron_variant	Intron 3 of 4	3
ENSG00000228033	ENST00000668945.1	n.220-78590T>C		intron_variant	Intron 3 of 5

Frequencies

GnomAD3 genomes AF: 0.0538 AC: 8181 AN: 152040 Hom.: 503 Cov.: 32

Gnomad AFR AF: 0.0857

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.128

Gnomad ASJ AF: 0.0167

Gnomad EAS AF: 0.214

Gnomad SAS AF: 0.0211

Gnomad FIN AF: 0.0851

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.00528

Gnomad OTH AF: 0.0617

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

GnomAD4 genome AF: 0.0539 AC: 8199 AN: 152158 Hom.: 503 Cov.: 32 AF XY: 0.0584 AC XY: 4348 AN XY: 74396

African (AFR) AF: 0.0858 AC: 3560 AN: 41512

American (AMR) AF: 0.128 AC: 1959 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.0167 AC: 58 AN: 3472

East Asian (EAS) AF: 0.214 AC: 1109 AN: 5174

South Asian (SAS) AF: 0.0207 AC: 100 AN: 4820

European-Finnish (FIN) AF: 0.0851 AC: 901 AN: 10592

Middle Eastern (MID) AF: 0.0816 AC: 24 AN: 294

European-Non Finnish (NFE) AF: 0.00528 AC: 359 AN: 67996

Other (OTH) AF: 0.0611 AC: 129 AN: 2112

Alfa AF: 0.0256 Hom.: 263

Bravo AF: 0.0612

Asia WGS AF: 0.128 AC: 443 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.34
DANN	Benign	0.48
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs10496009; hg19: chr2-53032546;