rs12155672

Variant names:

• chr8-127494779-A-G
• rs12155672

Your query was ambiguous. Multiple possible variants found:

• chr8-127494779-A-G
• chr8-127494779-A-T

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 0.473 in 148,588 control chromosomes in the GnomAD database, including 16,754 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 0.47 (16754 hom., cov: 24)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.199
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.498 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: 0.473 AC: 70268 AN: 148470 Hom.: 16748 Cov.: 24

Gnomad AFR AF: 0.473

Gnomad AMI AF: 0.413

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.459

Gnomad EAS AF: 0.372

Gnomad SAS AF: 0.496

Gnomad FIN AF: 0.387

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.503

Gnomad OTH AF: 0.461

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

GnomAD4 genome AF: 0.473 AC: 70303 AN: 148588 Hom.: 16754 Cov.: 24 AF XY: 0.467 AC XY: 33761 AN XY: 72278

African (AFR) AF: 0.472 AC: 18939 AN: 40120

American (AMR) AF: 0.438 AC: 6453 AN: 14744

Ashkenazi Jewish (ASJ) AF: 0.459 AC: 1584 AN: 3448

East Asian (EAS) AF: 0.373 AC: 1902 AN: 5100

South Asian (SAS) AF: 0.496 AC: 2240 AN: 4512

European-Finnish (FIN) AF: 0.387 AC: 3914 AN: 10114

Middle Eastern (MID) AF: 0.425 AC: 125 AN: 294

European-Non Finnish (NFE) AF: 0.503 AC: 33841 AN: 67316

Other (OTH) AF: 0.457 AC: 933 AN: 2040

Alfa AF: 0.484 Hom.: 14091

Bravo AF: 0.471

Asia WGS AF: 0.403 AC: 1406 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.4
DANN	Benign	0.76
PhyloP100		-0.20

Splicing

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

Other links and lift over

dbSNP: rs12155672; hg19: chr8-128507024; COSMIC: COSV68250257;