rs968794

Variant names:

• chr7-10849858-G-A
• rs968794

Your query was ambiguous. Multiple possible variants found:

• chr7-10849858-G-A
• chr7-10849858-G-C

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 0.377 in 142,588 control chromosomes in the GnomAD database, including 10,314 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 0.38 (10314 hom., cov: 24)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.76

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.46 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: 0.377 AC: 53784 AN: 142544 Hom.: 10316 Cov.: 24

Gnomad AFR AF: 0.277

Gnomad AMI AF: 0.530

Gnomad AMR AF: 0.379

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.335

Gnomad SAS AF: 0.477

Gnomad FIN AF: 0.427

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.414

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.377 AC: 53787 AN: 142588 Hom.: 10314 Cov.: 24 AF XY: 0.380 AC XY: 26233 AN XY: 68950

Gnomad4 AFR AF: 0.277

Gnomad4 AMR AF: 0.379

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.336

Gnomad4 SAS AF: 0.477

Gnomad4 FIN AF: 0.427

Gnomad4 NFE AF: 0.414

Gnomad4 OTH AF: 0.423

Alfa AF: 0.382 Hom.: 1969

Bravo AF: 0.361

Asia WGS AF: 0.387 AC: 1328 AN: 3442

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs968794; hg19: chr7-10889485;