rs7814837

Variant names:

• chr8-127509957-T-G
• rs7814837

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 0.902 in 152,122 control chromosomes in the GnomAD database, including 61,946 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 0.90 (61946 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0150
• Publications: 13 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.913 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.902 AC: 137095 AN: 152004 Hom.: 61901 Cov.: 32

Gnomad AFR AF: 0.917

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.848

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.916

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

GnomAD4 genome AF: 0.902 AC: 137197 AN: 152122 Hom.: 61946 Cov.: 32 AF XY: 0.899 AC XY: 66813 AN XY: 74310

African (AFR) AF: 0.918 AC: 38104 AN: 41528

American (AMR) AF: 0.925 AC: 14148 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3266 AN: 3472

East Asian (EAS) AF: 0.848 AC: 4391 AN: 5176

South Asian (SAS) AF: 0.868 AC: 4180 AN: 4816

European-Finnish (FIN) AF: 0.838 AC: 8813 AN: 10512

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61268 AN: 68012

Other (OTH) AF: 0.911 AC: 1923 AN: 2112

Alfa AF: 0.901 Hom.: 33404

Bravo AF: 0.907

Asia WGS AF: 0.821 AC: 2856 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.7
DANN	Benign	0.74
PhyloP100		-0.015

Splicing

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

Other links and lift over

dbSNP: rs7814837; hg19: chr8-128522202;