rs4711750

Variant names:

• chr6-43789345-T-A
• rs4711750

Your query was ambiguous. Multiple possible variants found:

• chr6-43789345-T-A
• chr6-43789345-T-C
• chr6-43789345-T-G

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 0.423 in 152,022 control chromosomes in the GnomAD database, including 15,345 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 (15345 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.169
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.58).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.659 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: 0.423 AC: 64232 AN: 151904 Hom.: 15337 Cov.: 31

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.650

Gnomad AMR AF: 0.504

Gnomad ASJ AF: 0.535

Gnomad EAS AF: 0.557

Gnomad SAS AF: 0.677

Gnomad FIN AF: 0.521

Gnomad MID AF: 0.513

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.423 AC: 64257 AN: 152022 Hom.: 15345 Cov.: 31 AF XY: 0.431 AC XY: 32050 AN XY: 74314

African (AFR) AF: 0.185 AC: 7657 AN: 41454

American (AMR) AF: 0.505 AC: 7721 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.535 AC: 1855 AN: 3470

East Asian (EAS) AF: 0.558 AC: 2882 AN: 5168

South Asian (SAS) AF: 0.679 AC: 3269 AN: 4816

European-Finnish (FIN) AF: 0.521 AC: 5494 AN: 10538

Middle Eastern (MID) AF: 0.510 AC: 150 AN: 294

European-Non Finnish (NFE) AF: 0.496 AC: 33730 AN: 67972

Other (OTH) AF: 0.430 AC: 906 AN: 2108

Alfa AF: 0.447 Hom.: 2029

Bravo AF: 0.408

Asia WGS AF: 0.540 AC: 1877 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.58
CADD	Benign	6.2
DANN	Benign	0.95
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs4711750; hg19: chr6-43757082;