rs4947934

Variant names:

• chr7-50836449-T-A
• rs4947934

Your query was ambiguous. Multiple possible variants found:

• chr7-50836449-T-A
• chr7-50836449-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 0.639 in 152,124 control chromosomes in the GnomAD database, including 32,531 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 0.64 (32531 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.809 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: 0.639 AC: 97096 AN: 152006 Hom.: 32478 Cov.: 33

Gnomad AFR AF: 0.816

Gnomad AMI AF: 0.418

Gnomad AMR AF: 0.714

Gnomad ASJ AF: 0.628

Gnomad EAS AF: 0.779

Gnomad SAS AF: 0.706

Gnomad FIN AF: 0.586

Gnomad MID AF: 0.710

Gnomad NFE AF: 0.509

Gnomad OTH AF: 0.648

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

GnomAD4 genome AF: 0.639 AC: 97207 AN: 152124 Hom.: 32531 Cov.: 33 AF XY: 0.647 AC XY: 48097 AN XY: 74328

African (AFR) AF: 0.816 AC: 33894 AN: 41514

American (AMR) AF: 0.715 AC: 10929 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.628 AC: 2176 AN: 3466

East Asian (EAS) AF: 0.780 AC: 4031 AN: 5170

South Asian (SAS) AF: 0.707 AC: 3410 AN: 4824

European-Finnish (FIN) AF: 0.586 AC: 6189 AN: 10570

Middle Eastern (MID) AF: 0.709 AC: 207 AN: 292

European-Non Finnish (NFE) AF: 0.509 AC: 34621 AN: 67970

Other (OTH) AF: 0.647 AC: 1369 AN: 2116

Alfa AF: 0.564 Hom.: 3001

Bravo AF: 0.656

Asia WGS AF: 0.743 AC: 2583 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.094
DANN	Benign	0.74
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs4947934; hg19: chr7-50904146;