rs910696

Variant names:

• chr1-30094749-G-A
• rs910696

Your query was ambiguous. Multiple possible variants found:

• chr1-30094749-G-A
• chr1-30094749-G-C
• chr1-30094749-G-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 0.3 in 152,154 control chromosomes in the GnomAD database, including 7,483 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 0.30 (7483 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.965

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.573 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: 0.300 AC: 45606 AN: 152036 Hom.: 7475 Cov.: 33

Gnomad AFR AF: 0.229

Gnomad AMI AF: 0.333

Gnomad AMR AF: 0.401

Gnomad ASJ AF: 0.171

Gnomad EAS AF: 0.589

Gnomad SAS AF: 0.363

Gnomad FIN AF: 0.297

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.266

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

GnomAD4 genome AF: 0.300 AC: 45634 AN: 152154 Hom.: 7483 Cov.: 33 AF XY: 0.303 AC XY: 22565 AN XY: 74376

Gnomad4 AFR AF: 0.229

Gnomad4 AMR AF: 0.401

Gnomad4 ASJ AF: 0.171

Gnomad4 EAS AF: 0.590

Gnomad4 SAS AF: 0.363

Gnomad4 FIN AF: 0.297

Gnomad4 NFE AF: 0.302

Gnomad4 OTH AF: 0.263

Alfa AF: 0.304 Hom.: 11907

Bravo AF: 0.305

Asia WGS AF: 0.426 AC: 1481 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.1
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs910696; hg19: chr1-30567596;