rs7905537

Variant names:

• chr10-33942347-A-C
• rs7905537

Your query was ambiguous. Multiple possible variants found:

• chr10-33942347-A-C
• chr10-33942347-A-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 0.233 in 152,034 control chromosomes in the GnomAD database, including 5,127 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 0.23 (5127 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0400
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.42 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: 0.233 AC: 35426 AN: 151916 Hom.: 5120 Cov.: 31

Gnomad AFR AF: 0.0772

Gnomad AMI AF: 0.213

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.313

Gnomad EAS AF: 0.279

Gnomad SAS AF: 0.236

Gnomad FIN AF: 0.275

Gnomad MID AF: 0.242

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.265

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

GnomAD4 genome AF: 0.233 AC: 35443 AN: 152034 Hom.: 5127 Cov.: 31 AF XY: 0.237 AC XY: 17628 AN XY: 74314

African (AFR) AF: 0.0771 AC: 3199 AN: 41514

American (AMR) AF: 0.428 AC: 6538 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.313 AC: 1085 AN: 3470

East Asian (EAS) AF: 0.280 AC: 1440 AN: 5152

South Asian (SAS) AF: 0.237 AC: 1139 AN: 4810

European-Finnish (FIN) AF: 0.275 AC: 2902 AN: 10562

Middle Eastern (MID) AF: 0.240 AC: 70 AN: 292

European-Non Finnish (NFE) AF: 0.269 AC: 18313 AN: 67958

Other (OTH) AF: 0.267 AC: 563 AN: 2106

Alfa AF: 0.257 Hom.: 13618

Bravo AF: 0.240

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.82
DANN	Benign	0.34
PhyloP100		-0.040

Splicing

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

Other links and lift over

dbSNP: rs7905537; hg19: chr10-34231275;