8-138922244-C-G

Variant names:

• chr8-138922244-C-G
• rs7000744

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 0.942 in 152,260 control chromosomes in the GnomAD database, including 67,621 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 0.94 (67621 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.899
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.942 AC: 143323 AN: 152142 Hom.: 67568 Cov.: 32

Gnomad AFR AF: 0.969

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.945

Gnomad ASJ AF: 0.978

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.960

Gnomad FIN AF: 0.908

Gnomad MID AF: 0.965

Gnomad NFE AF: 0.923

Gnomad OTH AF: 0.954

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

GnomAD4 genome AF: 0.942 AC: 143434 AN: 152260 Hom.: 67621 Cov.: 32 AF XY: 0.942 AC XY: 70115 AN XY: 74438

African (AFR) AF: 0.969 AC: 40250 AN: 41554

American (AMR) AF: 0.945 AC: 14458 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.978 AC: 3394 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5171 AN: 5174

South Asian (SAS) AF: 0.960 AC: 4630 AN: 4824

European-Finnish (FIN) AF: 0.908 AC: 9622 AN: 10600

Middle Eastern (MID) AF: 0.963 AC: 283 AN: 294

European-Non Finnish (NFE) AF: 0.923 AC: 62786 AN: 68018

Other (OTH) AF: 0.954 AC: 2017 AN: 2114

Alfa AF: 0.929 Hom.: 7650

Bravo AF: 0.946

Asia WGS AF: 0.980 AC: 3408 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.42
DANN	Benign	0.40
PhyloP100		-0.90

Splicing

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

Other links and lift over

dbSNP: rs7000744; hg19: chr8-139934487;