8-6966046-T-C

Variant names:

• chr8-6966046-T-C
• rs2738045

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 0.483 in 152,068 control chromosomes in the GnomAD database, including 17,905 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 0.48 (17905 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.44
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.535 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: 0.483 AC: 73376 AN: 151950 Hom.: 17860 Cov.: 33

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.465

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.401

Gnomad EAS AF: 0.514

Gnomad SAS AF: 0.497

Gnomad FIN AF: 0.499

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.443

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.483 AC: 73476 AN: 152068 Hom.: 17905 Cov.: 33 AF XY: 0.487 AC XY: 36218 AN XY: 74358

African (AFR) AF: 0.541 AC: 22431 AN: 41480

American (AMR) AF: 0.505 AC: 7718 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.401 AC: 1391 AN: 3470

East Asian (EAS) AF: 0.514 AC: 2656 AN: 5166

South Asian (SAS) AF: 0.496 AC: 2389 AN: 4818

European-Finnish (FIN) AF: 0.499 AC: 5277 AN: 10566

Middle Eastern (MID) AF: 0.429 AC: 126 AN: 294

European-Non Finnish (NFE) AF: 0.443 AC: 30093 AN: 67966

Other (OTH) AF: 0.459 AC: 972 AN: 2116

Alfa AF: 0.396 Hom.: 1928

Bravo AF: 0.484

Asia WGS AF: 0.544 AC: 1894 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.75
DANN	Benign	0.20
PhyloP100		-3.4

Splicing

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

Other links and lift over

dbSNP: rs2738045; hg19: chr8-6823568;