8-31636819-G-T

Variant names:

• chr8-31636819-G-T
• rs62510682

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 0.283 in 152,108 control chromosomes in the GnomAD database, including 6,874 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 0.28 (6874 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.10
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.352 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: 0.283 AC: 43025 AN: 151990 Hom.: 6874 Cov.: 33

Gnomad AFR AF: 0.153

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.360

Gnomad ASJ AF: 0.282

Gnomad EAS AF: 0.0802

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.373

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.351

Gnomad OTH AF: 0.275

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

GnomAD4 genome AF: 0.283 AC: 43034 AN: 152108 Hom.: 6874 Cov.: 33 AF XY: 0.284 AC XY: 21137 AN XY: 74360

African (AFR) AF: 0.153 AC: 6346 AN: 41506

American (AMR) AF: 0.360 AC: 5508 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.282 AC: 976 AN: 3466

East Asian (EAS) AF: 0.0804 AC: 416 AN: 5174

South Asian (SAS) AF: 0.225 AC: 1084 AN: 4818

European-Finnish (FIN) AF: 0.373 AC: 3935 AN: 10550

Middle Eastern (MID) AF: 0.279 AC: 82 AN: 294

European-Non Finnish (NFE) AF: 0.351 AC: 23836 AN: 68000

Other (OTH) AF: 0.271 AC: 571 AN: 2106

Alfa AF: 0.255 Hom.: 1181

Bravo AF: 0.279

Asia WGS AF: 0.178 AC: 619 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	8.4
DANN	Benign	0.66
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs62510682; hg19: chr8-31494335;