rs1835482

Variant names:

• chr8-72393439-G-C
• rs1835482

Your query was ambiguous. Multiple possible variants found:

• chr8-72393439-G-C
• chr8-72393439-G-T

Variant summary

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

The variant allele was found at a frequency of 0.3 in 152,122 control chromosomes in the GnomAD database, including 7,114 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 0.30 (7114 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.241
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.365 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

Frequencies

GnomAD3 genomes AF: 0.300 AC: 45624 AN: 152004 Hom.: 7113 Cov.: 33

Gnomad AFR AF: 0.226

Gnomad AMI AF: 0.364

Gnomad AMR AF: 0.259

Gnomad ASJ AF: 0.373

Gnomad EAS AF: 0.165

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.292

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.354

Gnomad OTH AF: 0.325

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

GnomAD4 genome AF: 0.300 AC: 45635 AN: 152122 Hom.: 7114 Cov.: 33 AF XY: 0.297 AC XY: 22094 AN XY: 74362

African (AFR) AF: 0.226 AC: 9366 AN: 41510

American (AMR) AF: 0.259 AC: 3958 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.373 AC: 1296 AN: 3472

East Asian (EAS) AF: 0.166 AC: 856 AN: 5162

South Asian (SAS) AF: 0.380 AC: 1826 AN: 4810

European-Finnish (FIN) AF: 0.292 AC: 3089 AN: 10564

Middle Eastern (MID) AF: 0.510 AC: 150 AN: 294

European-Non Finnish (NFE) AF: 0.354 AC: 24077 AN: 67984

Other (OTH) AF: 0.324 AC: 685 AN: 2114

Alfa AF: 0.318 Hom.: 993

Bravo AF: 0.290

Asia WGS AF: 0.281 AC: 978 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
DANN	Benign	0.44
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs1835482; hg19: chr8-73305674; COSMIC: COSV53505766;