rs2034705

Variant names:

• chr15-36540424-T-C
• rs2034705

Your query was ambiguous. Multiple possible variants found:

• chr15-36540424-T-C
• chr15-36540424-T-G

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 0.12 in 152,204 control chromosomes in the GnomAD database, including 1,175 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 0.12 (1175 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.147 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: 0.120 AC: 18279 AN: 152086 Hom.: 1170 Cov.: 32

Gnomad AFR AF: 0.0995

Gnomad AMI AF: 0.111

Gnomad AMR AF: 0.134

Gnomad ASJ AF: 0.0605

Gnomad EAS AF: 0.0782

Gnomad SAS AF: 0.156

Gnomad FIN AF: 0.159

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.128

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.120 AC: 18297 AN: 152204 Hom.: 1175 Cov.: 32 AF XY: 0.122 AC XY: 9083 AN XY: 74430

African (AFR) AF: 0.0997 AC: 4139 AN: 41514

American (AMR) AF: 0.133 AC: 2040 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.0605 AC: 210 AN: 3470

East Asian (EAS) AF: 0.0784 AC: 406 AN: 5180

South Asian (SAS) AF: 0.156 AC: 755 AN: 4830

European-Finnish (FIN) AF: 0.159 AC: 1687 AN: 10594

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.128 AC: 8721 AN: 68008

Other (OTH) AF: 0.108 AC: 227 AN: 2108

Alfa AF: 0.116 Hom.: 1388

Bravo AF: 0.113

Asia WGS AF: 0.133 AC: 463 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.077
DANN	Benign	0.82
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs2034705; hg19: chr15-36832625;