rs227812

Variant names:

• chr6-44703474-G-A
• rs227812

Your query was ambiguous. Multiple possible variants found:

• chr6-44703474-G-A
• chr6-44703474-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.25 (1763 hom., cov: 20)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.94
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.364 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: 0.253 AC: 20268 AN: 80246 Hom.: 1752 Cov.: 20

Gnomad AFR AF: 0.370

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.178

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.0180

Gnomad SAS AF: 0.253

Gnomad FIN AF: 0.134

Gnomad MID AF: 0.217

Gnomad NFE AF: 0.206

Gnomad OTH AF: 0.230

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

GnomAD4 genome AF: 0.253 AC: 20303 AN: 80310 Hom.: 1763 Cov.: 20 AF XY: 0.246 AC XY: 9633 AN XY: 39128

African (AFR) AF: 0.371 AC: 9951 AN: 26858

American (AMR) AF: 0.178 AC: 1283 AN: 7202

Ashkenazi Jewish (ASJ) AF: 0.193 AC: 308 AN: 1600

East Asian (EAS) AF: 0.0180 AC: 21 AN: 1166

South Asian (SAS) AF: 0.252 AC: 591 AN: 2348

European-Finnish (FIN) AF: 0.134 AC: 751 AN: 5608

Middle Eastern (MID) AF: 0.210 AC: 34 AN: 162

European-Non Finnish (NFE) AF: 0.206 AC: 6996 AN: 33914

Other (OTH) AF: 0.230 AC: 235 AN: 1020

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.096
DANN	Benign	0.58
PhyloP100		-1.9

Splicing

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

Other links and lift over

dbSNP: rs227812; hg19: chr6-44671211;