rs10777845

Variant names:

• chr12-97295990-C-T
• rs10777845

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 0.329 in 152,028 control chromosomes in the GnomAD database, including 8,549 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 0.33 (8549 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0340
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.37 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: 0.329 AC: 49932 AN: 151910 Hom.: 8537 Cov.: 32

Gnomad AFR AF: 0.375

Gnomad AMI AF: 0.243

Gnomad AMR AF: 0.340

Gnomad ASJ AF: 0.283

Gnomad EAS AF: 0.0282

Gnomad SAS AF: 0.247

Gnomad FIN AF: 0.290

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.336

Gnomad OTH AF: 0.316

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

GnomAD4 genome AF: 0.329 AC: 49994 AN: 152028 Hom.: 8549 Cov.: 32 AF XY: 0.324 AC XY: 24108 AN XY: 74302

African (AFR) AF: 0.375 AC: 15566 AN: 41472

American (AMR) AF: 0.340 AC: 5185 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.283 AC: 982 AN: 3470

East Asian (EAS) AF: 0.0282 AC: 146 AN: 5170

South Asian (SAS) AF: 0.248 AC: 1196 AN: 4816

European-Finnish (FIN) AF: 0.290 AC: 3059 AN: 10562

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.336 AC: 22859 AN: 67968

Other (OTH) AF: 0.317 AC: 669 AN: 2112

Alfa AF: 0.331 Hom.: 29008

Bravo AF: 0.334

Asia WGS AF: 0.212 AC: 741 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.7
DANN	Benign	0.96
PhyloP100		0.034

Splicing

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

Other links and lift over

dbSNP: rs10777845; hg19: chr12-97689768;