rs1943950

Variant names:

• chr21-30107534-G-A
• rs1943950

Your query was ambiguous. Multiple possible variants found:

• chr21-30107534-G-A
• chr21-30107534-G-C
• chr21-30107534-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 0.2 in 151,988 control chromosomes in the GnomAD database, including 3,929 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 0.20 (3929 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.641
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.359 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: 0.200 AC: 30366 AN: 151870 Hom.: 3926 Cov.: 32

Gnomad AFR AF: 0.365

Gnomad AMI AF: 0.102

Gnomad AMR AF: 0.128

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.210

Gnomad SAS AF: 0.272

Gnomad FIN AF: 0.0644

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.191

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

GnomAD4 genome AF: 0.200 AC: 30391 AN: 151988 Hom.: 3929 Cov.: 32 AF XY: 0.197 AC XY: 14608 AN XY: 74294

African (AFR) AF: 0.364 AC: 15086 AN: 41432

American (AMR) AF: 0.128 AC: 1946 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.137 AC: 474 AN: 3466

East Asian (EAS) AF: 0.210 AC: 1087 AN: 5164

South Asian (SAS) AF: 0.271 AC: 1308 AN: 4820

European-Finnish (FIN) AF: 0.0644 AC: 683 AN: 10598

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.136 AC: 9265 AN: 67938

Other (OTH) AF: 0.191 AC: 404 AN: 2110

Alfa AF: 0.155 Hom.: 7212

Bravo AF: 0.209

Asia WGS AF: 0.252 AC: 872 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.2
DANN	Benign	0.75
PhyloP100		-0.64

Splicing

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

Other links and lift over

dbSNP: rs1943950; hg19: chr21-31479852;