7-22735652-T-C

Variant names:

• chr7-22735652-T-C
• rs7808204

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 0.109 in 151,992 control chromosomes in the GnomAD database, including 2,180 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 0.11 (2180 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.281
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.308 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: 0.109 AC: 16555 AN: 151876 Hom.: 2175 Cov.: 31

Gnomad AFR AF: 0.313

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0695

Gnomad ASJ AF: 0.0715

Gnomad EAS AF: 0.0101

Gnomad SAS AF: 0.0587

Gnomad FIN AF: 0.0219

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0233

Gnomad OTH AF: 0.0842

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

GnomAD4 genome AF: 0.109 AC: 16587 AN: 151992 Hom.: 2180 Cov.: 31 AF XY: 0.107 AC XY: 7973 AN XY: 74308

African (AFR) AF: 0.313 AC: 12938 AN: 41384

American (AMR) AF: 0.0699 AC: 1067 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0715 AC: 248 AN: 3470

East Asian (EAS) AF: 0.0101 AC: 52 AN: 5156

South Asian (SAS) AF: 0.0582 AC: 280 AN: 4814

European-Finnish (FIN) AF: 0.0219 AC: 232 AN: 10602

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.0233 AC: 1581 AN: 67980

Other (OTH) AF: 0.0829 AC: 175 AN: 2112

Alfa AF: 0.0362 Hom.: 61

Bravo AF: 0.123

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	12
DANN	Benign	0.81
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs7808204; hg19: chr7-22775271;