rs4947936

Variant names:

• chr7-50839055-C-A
• rs4947936

Your query was ambiguous. Multiple possible variants found:

• chr7-50839055-C-A
• chr7-50839055-C-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 0.692 in 152,014 control chromosomes in the GnomAD database, including 38,331 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 0.69 (38331 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.339
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.904 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.691 AC: 105031 AN: 151896 Hom.: 38264 Cov.: 31

Gnomad AFR AF: 0.911

Gnomad AMI AF: 0.497

Gnomad AMR AF: 0.728

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.836

Gnomad SAS AF: 0.779

Gnomad FIN AF: 0.658

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.543

Gnomad OTH AF: 0.684

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

GnomAD4 genome AF: 0.692 AC: 105158 AN: 152014 Hom.: 38331 Cov.: 31 AF XY: 0.701 AC XY: 52097 AN XY: 74294

African (AFR) AF: 0.911 AC: 37821 AN: 41500

American (AMR) AF: 0.728 AC: 11128 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.641 AC: 2226 AN: 3472

East Asian (EAS) AF: 0.836 AC: 4309 AN: 5152

South Asian (SAS) AF: 0.780 AC: 3745 AN: 4802

European-Finnish (FIN) AF: 0.658 AC: 6934 AN: 10544

Middle Eastern (MID) AF: 0.759 AC: 223 AN: 294

European-Non Finnish (NFE) AF: 0.543 AC: 36877 AN: 67944

Other (OTH) AF: 0.683 AC: 1442 AN: 2112

Alfa AF: 0.583 Hom.: 37934

Bravo AF: 0.706

Asia WGS AF: 0.821 AC: 2850 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.73
DANN	Benign	0.82
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs4947936; hg19: chr7-50906752;