8-106077772-C-T

Variant names:

• chr8-106077772-C-T
• rs12541635

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 0.553 in 151,502 control chromosomes in the GnomAD database, including 23,504 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 0.55 (23504 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.145
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.622 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: 0.553 AC: 83690 AN: 151386 Hom.: 23494 Cov.: 30

Gnomad AFR AF: 0.541

Gnomad AMI AF: 0.514

Gnomad AMR AF: 0.483

Gnomad ASJ AF: 0.620

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.643

Gnomad FIN AF: 0.552

Gnomad MID AF: 0.564

Gnomad NFE AF: 0.564

Gnomad OTH AF: 0.522

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

GnomAD4 genome AF: 0.553 AC: 83740 AN: 151502 Hom.: 23504 Cov.: 30 AF XY: 0.553 AC XY: 40916 AN XY: 73990

African (AFR) AF: 0.541 AC: 22405 AN: 41384

American (AMR) AF: 0.483 AC: 7346 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.620 AC: 2149 AN: 3466

East Asian (EAS) AF: 0.597 AC: 3077 AN: 5152

South Asian (SAS) AF: 0.641 AC: 3057 AN: 4766

European-Finnish (FIN) AF: 0.552 AC: 5766 AN: 10450

Middle Eastern (MID) AF: 0.568 AC: 166 AN: 292

European-Non Finnish (NFE) AF: 0.564 AC: 38223 AN: 67772

Other (OTH) AF: 0.515 AC: 1082 AN: 2100

Alfa AF: 0.557 Hom.: 64708

Bravo AF: 0.544

Asia WGS AF: 0.569 AC: 1976 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	5.7
DANN	Benign	0.25
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs12541635; hg19: chr8-107090000;