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. The variant received -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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.332 AC: 13765 AN: 41474

American (AMR) AF: 0.460 AC: 7031 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.494 AC: 1714 AN: 3470

East Asian (EAS) AF: 0.830 AC: 4295 AN: 5172

South Asian (SAS) AF: 0.509 AC: 2447 AN: 4812

European-Finnish (FIN) AF: 0.485 AC: 5120 AN: 10558

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.456 AC: 31005 AN: 67954

Other (OTH) AF: 0.454 AC: 956 AN: 2108

Alfa AF: 0.449 Hom.: 25997

Bravo AF: 0.436

Asia WGS AF: 0.608 AC: 2115 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.2
DANN	Benign	0.57
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs7796855; hg19: chr7-49657446;