rs2835667

Variant names:

• chr21-37207613-G-A
• rs2835667

Your query was ambiguous. Multiple possible variants found:

• chr21-37207613-G-A
• chr21-37207613-G-C
• chr21-37207613-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.532 in 152,048 control chromosomes in the GnomAD database, including 22,191 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 0.53 (22191 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.192

ACMG classification

Verdict is Benign. Variant got -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 = 0.636 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: 0.532 AC: 80843 AN: 151930 Hom.: 22159 Cov.: 32

Gnomad AFR AF: 0.643

Gnomad AMI AF: 0.345

Gnomad AMR AF: 0.577

Gnomad ASJ AF: 0.402

Gnomad EAS AF: 0.573

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.458

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.532 AC: 80922 AN: 152048 Hom.: 22191 Cov.: 32 AF XY: 0.535 AC XY: 39746 AN XY: 74328

Gnomad4 AFR AF: 0.642

Gnomad4 AMR AF: 0.577

Gnomad4 ASJ AF: 0.402

Gnomad4 EAS AF: 0.573

Gnomad4 SAS AF: 0.577

Gnomad4 FIN AF: 0.530

Gnomad4 NFE AF: 0.458

Gnomad4 OTH AF: 0.546

Alfa AF: 0.458 Hom.: 15300

Bravo AF: 0.536

Asia WGS AF: 0.597 AC: 2077 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.4
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2835667; hg19: chr21-38579914;