rs10440635

Variant names:

• chr5-40490688-G-A
• rs10440635
• ENST00000649444.1:n.242+4190G>A

Variant summary

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

The ENST00000649444.1(ENSG00000285552):​n.242+4190G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.548 in 151,928 control chromosomes in the GnomAD database, including 23,473 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 0.55 (23473 hom., cov: 32)
• Consequence: ENSG00000285552 ENST00000649444.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.775
• Publications: 38 publications found

Genes affected

ENSG00000285552 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.581 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
ENSG00000285552	ENST00000649444.1	n.242+4190G>A		intron_variant	Intron 2 of 2
ENSG00000285552	ENST00000649894.1	n.120-13183G>A		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.548 AC: 83160 AN: 151810 Hom.: 23445 Cov.: 32

Gnomad AFR AF: 0.588

Gnomad AMI AF: 0.716

Gnomad AMR AF: 0.506

Gnomad ASJ AF: 0.531

Gnomad EAS AF: 0.190

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.495

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.585

Gnomad OTH AF: 0.525

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

GnomAD4 genome AF: 0.548 AC: 83231 AN: 151928 Hom.: 23473 Cov.: 32 AF XY: 0.537 AC XY: 39856 AN XY: 74240

African (AFR) AF: 0.587 AC: 24343 AN: 41444

American (AMR) AF: 0.506 AC: 7720 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.531 AC: 1844 AN: 3470

East Asian (EAS) AF: 0.190 AC: 981 AN: 5158

South Asian (SAS) AF: 0.302 AC: 1457 AN: 4822

European-Finnish (FIN) AF: 0.495 AC: 5211 AN: 10532

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.585 AC: 39741 AN: 67940

Other (OTH) AF: 0.528 AC: 1113 AN: 2106

Alfa AF: 0.563 Hom.: 97213

Bravo AF: 0.554

Asia WGS AF: 0.265 AC: 924 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	7.5
DANN	Benign	0.57
PhyloP100		0.78

Splicing

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

Other links and lift over

dbSNP: rs10440635; hg19: chr5-40490790;