rs7165535

Variant names:

• chr15-44724147-A-G
• rs7165535

Your query was ambiguous. Multiple possible variants found:

• chr15-44724147-A-G
• chr15-44724147-A-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 0.883 in 152,142 control chromosomes in the GnomAD database, including 59,420 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 0.88 (59420 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.624

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.889 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: 0.883 AC: 134243 AN: 152024 Hom.: 59378 Cov.: 31

Gnomad AFR AF: 0.888

Gnomad AMI AF: 0.956

Gnomad AMR AF: 0.847

Gnomad ASJ AF: 0.890

Gnomad EAS AF: 0.834

Gnomad SAS AF: 0.837

Gnomad FIN AF: 0.875

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.895

Gnomad OTH AF: 0.871

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

GnomAD4 genome AF: 0.883 AC: 134342 AN: 152142 Hom.: 59420 Cov.: 31 AF XY: 0.882 AC XY: 65624 AN XY: 74380

Gnomad4 AFR AF: 0.888

Gnomad4 AMR AF: 0.846

Gnomad4 ASJ AF: 0.890

Gnomad4 EAS AF: 0.834

Gnomad4 SAS AF: 0.839

Gnomad4 FIN AF: 0.875

Gnomad4 NFE AF: 0.895

Gnomad4 OTH AF: 0.868

Alfa AF: 0.889 Hom.: 16292

Bravo AF: 0.880

Asia WGS AF: 0.810 AC: 2819 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	4.6
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7165535; hg19: chr15-45016345;