rs7544736

Variant names:

• chr1-96698787-A-G
• rs7544736

Your query was ambiguous. Multiple possible variants found:

• chr1-96698787-A-G
• chr1-96698787-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 0.223 in 151,878 control chromosomes in the GnomAD database, including 4,202 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 0.22 (4202 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.164

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.333 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: 0.223 AC: 33772 AN: 151760 Hom.: 4193 Cov.: 32

Gnomad AFR AF: 0.337

Gnomad AMI AF: 0.242

Gnomad AMR AF: 0.157

Gnomad ASJ AF: 0.209

Gnomad EAS AF: 0.211

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.177

Gnomad OTH AF: 0.217

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

GnomAD4 genome AF: 0.223 AC: 33794 AN: 151878 Hom.: 4202 Cov.: 32 AF XY: 0.221 AC XY: 16441 AN XY: 74226

Gnomad4 AFR AF: 0.337

Gnomad4 AMR AF: 0.157

Gnomad4 ASJ AF: 0.209

Gnomad4 EAS AF: 0.210

Gnomad4 SAS AF: 0.170

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.177

Gnomad4 OTH AF: 0.216

Alfa AF: 0.186 Hom.: 6407

Bravo AF: 0.224

Asia WGS AF: 0.187 AC: 653 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	11
DANN	Benign	0.94

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7544736; hg19: chr1-97164343;