rs7235755

Variant names:

• chr18-37636298-A-G
• rs7235755
• ENST00000649194.1:n.110+70908A>G

Variant summary

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

The ENST00000649194.1(ENSG00000285940):​n.110+70908A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.755 in 151,920 control chromosomes in the GnomAD database, including 43,978 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 0.76 (43978 hom., cov: 31)
• Consequence: ENSG00000285940 ENST00000649194.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63
• Publications: 16 publications found

Genes affected

ENSG00000285940 (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 (NFE) allele frequency at 95% confidence interval = 0.808 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000285940	ENST00000649194.1	n.110+70908A>G		intron_variant	Intron 1 of 8
ENSG00000285940	ENST00000661428.1	n.263-1040A>G		intron_variant	Intron 1 of 2
ENSG00000285940	ENST00000813874.1	n.38-1040A>G		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.755 AC: 114677 AN: 151802 Hom.: 43956 Cov.: 31

Gnomad AFR AF: 0.624

Gnomad AMI AF: 0.794

Gnomad AMR AF: 0.810

Gnomad ASJ AF: 0.700

Gnomad EAS AF: 0.762

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.872

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.814

Gnomad OTH AF: 0.785

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

GnomAD4 genome AF: 0.755 AC: 114750 AN: 151920 Hom.: 43978 Cov.: 31 AF XY: 0.755 AC XY: 56044 AN XY: 74216

African (AFR) AF: 0.624 AC: 25851 AN: 41410

American (AMR) AF: 0.810 AC: 12374 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.700 AC: 2428 AN: 3468

East Asian (EAS) AF: 0.762 AC: 3900 AN: 5120

South Asian (SAS) AF: 0.648 AC: 3107 AN: 4792

European-Finnish (FIN) AF: 0.872 AC: 9231 AN: 10580

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.814 AC: 55296 AN: 67966

Other (OTH) AF: 0.781 AC: 1647 AN: 2108

Alfa AF: 0.786 Hom.: 24152

Bravo AF: 0.750

Asia WGS AF: 0.677 AC: 2350 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.013
DANN	Benign	0.30
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs7235755; hg19: chr18-35216261;