rs2949528

Variant names:

• chr18-30207298-G-A
• rs2949528

Your query was ambiguous. Multiple possible variants found:

• chr18-30207298-G-A
• chr18-30207298-G-C

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 0.328 in 151,804 control chromosomes in the GnomAD database, including 8,564 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 0.33 (8564 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0860
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.368 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: 0.328 AC: 49705 AN: 151686 Hom.: 8555 Cov.: 33

Gnomad AFR AF: 0.266

Gnomad AMI AF: 0.234

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.254

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.333

Gnomad FIN AF: 0.434

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.371

Gnomad OTH AF: 0.289

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

GnomAD4 genome AF: 0.328 AC: 49738 AN: 151804 Hom.: 8564 Cov.: 33 AF XY: 0.329 AC XY: 24436 AN XY: 74192

African (AFR) AF: 0.266 AC: 10992 AN: 41378

American (AMR) AF: 0.247 AC: 3768 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.254 AC: 881 AN: 3470

East Asian (EAS) AF: 0.353 AC: 1819 AN: 5146

South Asian (SAS) AF: 0.335 AC: 1609 AN: 4804

European-Finnish (FIN) AF: 0.434 AC: 4566 AN: 10510

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.371 AC: 25228 AN: 67932

Other (OTH) AF: 0.287 AC: 604 AN: 2106

Alfa AF: 0.353 Hom.: 5284

Bravo AF: 0.308

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.8
DANN	Benign	0.59
PhyloP100		-0.086

Splicing

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

Other links and lift over

dbSNP: rs2949528; hg19: chr18-27787263;