rs12948385

Variant names:

• chr17-1761607-G-A
• rs12948385

Your query was ambiguous. Multiple possible variants found:

• chr17-1761607-G-A
• chr17-1761607-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.263 in 152,040 control chromosomes in the GnomAD database, including 6,606 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 0.26 (6606 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.198

ACMG classification

Verdict is Benign. Variant got -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 = 0.367 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: 0.263 AC: 40005 AN: 151922 Hom.: 6610 Cov.: 32

Gnomad AFR AF: 0.0736

Gnomad AMI AF: 0.530

Gnomad AMR AF: 0.228

Gnomad ASJ AF: 0.347

Gnomad EAS AF: 0.276

Gnomad SAS AF: 0.241

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.371

Gnomad OTH AF: 0.289

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

GnomAD4 genome AF: 0.263 AC: 39994 AN: 152040 Hom.: 6606 Cov.: 32 AF XY: 0.261 AC XY: 19406 AN XY: 74306

Gnomad4 AFR AF: 0.0734

Gnomad4 AMR AF: 0.228

Gnomad4 ASJ AF: 0.347

Gnomad4 EAS AF: 0.275

Gnomad4 SAS AF: 0.241

Gnomad4 FIN AF: 0.311

Gnomad4 NFE AF: 0.371

Gnomad4 OTH AF: 0.286

Alfa AF: 0.293 Hom.: 974

Bravo AF: 0.250

Asia WGS AF: 0.205 AC: 715 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	4.8
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12948385; hg19: chr17-1664901;