rs461785

Variant names:

• chr16-65775141-G-A
• rs461785

Your query was ambiguous. Multiple possible variants found:

• chr16-65775141-G-A
• chr16-65775141-G-C
• chr16-65775141-G-T

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 0.424 in 152,002 control chromosomes in the GnomAD database, including 15,604 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 0.42 (15604 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.641

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.899 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: 0.424 AC: 64443 AN: 151884 Hom.: 15589 Cov.: 32

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.344

Gnomad AMR AF: 0.514

Gnomad ASJ AF: 0.541

Gnomad EAS AF: 0.920

Gnomad SAS AF: 0.501

Gnomad FIN AF: 0.589

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.460

Gnomad OTH AF: 0.445

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

GnomAD4 genome AF: 0.424 AC: 64484 AN: 152002 Hom.: 15604 Cov.: 32 AF XY: 0.435 AC XY: 32314 AN XY: 74292

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.515

Gnomad4 ASJ AF: 0.541

Gnomad4 EAS AF: 0.921

Gnomad4 SAS AF: 0.501

Gnomad4 FIN AF: 0.589

Gnomad4 NFE AF: 0.460

Gnomad4 OTH AF: 0.447

Alfa AF: 0.457 Hom.: 31791

Bravo AF: 0.413

Asia WGS AF: 0.656 AC: 2278 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.45
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs461785; hg19: chr16-65809044;