rs10797812

Variant names:

• chr1-183015462-G-A
• rs10797812

Your query was ambiguous. Multiple possible variants found:

• chr1-183015462-G-A
• chr1-183015462-G-C
• chr1-183015462-G-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 0.498 in 151,992 control chromosomes in the GnomAD database, including 19,518 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 0.50 (19518 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.617 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.497 AC: 75517 AN: 151874 Hom.: 19468 Cov.: 32

Gnomad AFR AF: 0.357

Gnomad AMI AF: 0.553

Gnomad AMR AF: 0.595

Gnomad ASJ AF: 0.472

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.633

Gnomad FIN AF: 0.594

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.527

Gnomad OTH AF: 0.511

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

GnomAD4 genome AF: 0.498 AC: 75620 AN: 151992 Hom.: 19518 Cov.: 32 AF XY: 0.505 AC XY: 37534 AN XY: 74296

African (AFR) AF: 0.357 AC: 14813 AN: 41454

American (AMR) AF: 0.595 AC: 9099 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.472 AC: 1635 AN: 3464

East Asian (EAS) AF: 0.615 AC: 3180 AN: 5170

South Asian (SAS) AF: 0.636 AC: 3067 AN: 4824

European-Finnish (FIN) AF: 0.594 AC: 6262 AN: 10548

Middle Eastern (MID) AF: 0.517 AC: 151 AN: 292

European-Non Finnish (NFE) AF: 0.527 AC: 35816 AN: 67926

Other (OTH) AF: 0.517 AC: 1094 AN: 2116

Alfa AF: 0.498 Hom.: 7957

Bravo AF: 0.489

Asia WGS AF: 0.637 AC: 2214 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.0
DANN	Benign	0.55
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs10797812; hg19: chr1-182984597;