rs7835968

Variant names:

• chr8-135823058-A-G
• rs7835968

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 0.308 in 101,168 control chromosomes in the GnomAD database, including 4,106 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 0.31 (4106 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.339
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.495 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: 0.308 AC: 31104 AN: 101076 Hom.: 4094 Cov.: 31

Gnomad AFR AF: 0.501

Gnomad AMI AF: 0.280

Gnomad AMR AF: 0.283

Gnomad ASJ AF: 0.364

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.295

Gnomad FIN AF: 0.167

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.308 AC: 31155 AN: 101168 Hom.: 4106 Cov.: 31 AF XY: 0.311 AC XY: 15134 AN XY: 48728

African (AFR) AF: 0.502 AC: 15284 AN: 30472

American (AMR) AF: 0.283 AC: 2811 AN: 9916

Ashkenazi Jewish (ASJ) AF: 0.364 AC: 926 AN: 2542

East Asian (EAS) AF: 0.309 AC: 1092 AN: 3538

South Asian (SAS) AF: 0.294 AC: 738 AN: 2512

European-Finnish (FIN) AF: 0.167 AC: 924 AN: 5540

Middle Eastern (MID) AF: 0.365 AC: 84 AN: 230

European-Non Finnish (NFE) AF: 0.195 AC: 8660 AN: 44356

Other (OTH) AF: 0.321 AC: 461 AN: 1436

Alfa AF: 0.250 Hom.: 1322

Bravo AF: 0.222

Asia WGS AF: 0.161 AC: 557 AN: 3458

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.4
DANN	Benign	0.51
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs7835968; hg19: chr8-136835301;