rs4932194

Variant names:

• chr15-88702008-A-C
• rs4932194

Your query was ambiguous. Multiple possible variants found:

• chr15-88702008-A-C
• chr15-88702008-A-G
• chr15-88702008-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 0.311 in 151,844 control chromosomes in the GnomAD database, including 7,961 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 0.31 (7961 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.31
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.517 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: 0.311 AC: 47256 AN: 151728 Hom.: 7952 Cov.: 32

Gnomad AFR AF: 0.201

Gnomad AMI AF: 0.414

Gnomad AMR AF: 0.411

Gnomad ASJ AF: 0.266

Gnomad EAS AF: 0.534

Gnomad SAS AF: 0.349

Gnomad FIN AF: 0.267

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.313

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

GnomAD4 genome AF: 0.311 AC: 47283 AN: 151844 Hom.: 7961 Cov.: 32 AF XY: 0.313 AC XY: 23212 AN XY: 74166

African (AFR) AF: 0.201 AC: 8344 AN: 41424

American (AMR) AF: 0.411 AC: 6268 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.266 AC: 923 AN: 3468

East Asian (EAS) AF: 0.534 AC: 2741 AN: 5134

South Asian (SAS) AF: 0.349 AC: 1674 AN: 4794

European-Finnish (FIN) AF: 0.267 AC: 2817 AN: 10534

Middle Eastern (MID) AF: 0.336 AC: 98 AN: 292

European-Non Finnish (NFE) AF: 0.344 AC: 23385 AN: 67924

Other (OTH) AF: 0.310 AC: 655 AN: 2110

Alfa AF: 0.331 Hom.: 18736

Bravo AF: 0.322

Asia WGS AF: 0.414 AC: 1440 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.88
DANN	Benign	0.18
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs4932194; hg19: chr15-89245239;