chr12-17955114-G-C

Variant names:

• chr12-17955114-G-C
• rs10770291

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 0.572 in 151,820 control chromosomes in the GnomAD database, including 25,862 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 0.57 (25862 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.605
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.745 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: 0.573 AC: 86853 AN: 151702 Hom.: 25857 Cov.: 30

Gnomad AFR AF: 0.418

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.514

Gnomad ASJ AF: 0.576

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.720

Gnomad FIN AF: 0.767

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.626

Gnomad OTH AF: 0.554

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

GnomAD4 genome AF: 0.572 AC: 86882 AN: 151820 Hom.: 25862 Cov.: 30 AF XY: 0.582 AC XY: 43167 AN XY: 74206

African (AFR) AF: 0.418 AC: 17281 AN: 41360

American (AMR) AF: 0.514 AC: 7833 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.576 AC: 1999 AN: 3472

East Asian (EAS) AF: 0.764 AC: 3937 AN: 5150

South Asian (SAS) AF: 0.720 AC: 3467 AN: 4814

European-Finnish (FIN) AF: 0.767 AC: 8093 AN: 10552

Middle Eastern (MID) AF: 0.544 AC: 160 AN: 294

European-Non Finnish (NFE) AF: 0.626 AC: 42500 AN: 67914

Other (OTH) AF: 0.554 AC: 1168 AN: 2110

Alfa AF: 0.588 Hom.: 3318

Bravo AF: 0.545

Asia WGS AF: 0.679 AC: 2361 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.4
DANN	Benign	0.70
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs10770291; hg19: chr12-18108048; COSMIC: COSV50091539;