rs7796855

Variant names:

• chr7-49617850-A-C
• rs7796855

Your query was ambiguous. Multiple possible variants found:

• chr7-49617850-A-C
• chr7-49617850-A-G
• chr7-49617850-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 0.44 in 152,030 control chromosomes in the GnomAD database, including 15,502 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 0.44 (15502 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.145

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.81 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: 0.440 AC: 66914 AN: 151910 Hom.: 15495 Cov.: 32

Gnomad AFR AF: 0.332

Gnomad AMI AF: 0.523

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.494

Gnomad EAS AF: 0.829

Gnomad SAS AF: 0.509

Gnomad FIN AF: 0.485

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.456

Gnomad OTH AF: 0.454

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

GnomAD4 genome AF: 0.440 AC: 66949 AN: 152030 Hom.: 15502 Cov.: 32 AF XY: 0.448 AC XY: 33328 AN XY: 74314

Gnomad4 AFR AF: 0.332

Gnomad4 AMR AF: 0.460

Gnomad4 ASJ AF: 0.494

Gnomad4 EAS AF: 0.830

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.485

Gnomad4 NFE AF: 0.456

Gnomad4 OTH AF: 0.454

Alfa AF: 0.453 Hom.: 20754

Bravo AF: 0.436

Asia WGS AF: 0.608 AC: 2115 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.2
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7796855; hg19: chr7-49657446;