8-73989727-C-G

Variant names:

• chr8-73989727-C-G
• rs11465996

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 0.25 in 152,014 control chromosomes in the GnomAD database, including 5,085 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 0.25 (5085 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102
• Publications: 44 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.299 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: 0.250 AC: 37974 AN: 151894 Hom.: 5084 Cov.: 32

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.427

Gnomad AMR AF: 0.230

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.191

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.333

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.303

Gnomad OTH AF: 0.229

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

GnomAD4 genome AF: 0.250 AC: 37983 AN: 152014 Hom.: 5085 Cov.: 32 AF XY: 0.251 AC XY: 18628 AN XY: 74312

African (AFR) AF: 0.159 AC: 6578 AN: 41446

American (AMR) AF: 0.230 AC: 3515 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.132 AC: 457 AN: 3466

East Asian (EAS) AF: 0.190 AC: 982 AN: 5176

South Asian (SAS) AF: 0.302 AC: 1457 AN: 4820

European-Finnish (FIN) AF: 0.333 AC: 3519 AN: 10562

Middle Eastern (MID) AF: 0.136 AC: 40 AN: 294

European-Non Finnish (NFE) AF: 0.303 AC: 20565 AN: 67964

Other (OTH) AF: 0.228 AC: 481 AN: 2108

Alfa AF: 0.269 Hom.: 739

Bravo AF: 0.239

Asia WGS AF: 0.240 AC: 836 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.9
DANN	Benign	0.77
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs11465996; hg19: chr8-74901962;