rs2738081

Variant names:

• chr8-6957996-G-T
• rs2738081

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 0.155 in 151,828 control chromosomes in the GnomAD database, including 1,876 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 0.15 (1876 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.35
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.222 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: 0.155 AC: 23448 AN: 151710 Hom.: 1877 Cov.: 31

Gnomad AFR AF: 0.106

Gnomad AMI AF: 0.0921

Gnomad AMR AF: 0.119

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.191

Gnomad SAS AF: 0.234

Gnomad FIN AF: 0.177

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.178

Gnomad OTH AF: 0.163

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

GnomAD4 genome AF: 0.155 AC: 23458 AN: 151828 Hom.: 1876 Cov.: 31 AF XY: 0.157 AC XY: 11645 AN XY: 74200

African (AFR) AF: 0.106 AC: 4391 AN: 41384

American (AMR) AF: 0.119 AC: 1825 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.198 AC: 688 AN: 3472

East Asian (EAS) AF: 0.191 AC: 982 AN: 5142

South Asian (SAS) AF: 0.233 AC: 1120 AN: 4806

European-Finnish (FIN) AF: 0.177 AC: 1862 AN: 10504

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.178 AC: 12106 AN: 67924

Other (OTH) AF: 0.165 AC: 348 AN: 2110

Alfa AF: 0.159 Hom.: 282

Bravo AF: 0.145

Asia WGS AF: 0.245 AC: 852 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.48
DANN	Benign	0.69
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs2738081; hg19: chr8-6815518;