chr7-31512070-A-G

Variant names:

• chr7-31512070-A-G
• rs217148

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 0.173 in 152,142 control chromosomes in the GnomAD database, including 3,148 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 0.17 (3148 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0460
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.304 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: 0.173 AC: 26249 AN: 152024 Hom.: 3135 Cov.: 33

Gnomad AFR AF: 0.308

Gnomad AMI AF: 0.0186

Gnomad AMR AF: 0.254

Gnomad ASJ AF: 0.0980

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.0721

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.0873

Gnomad OTH AF: 0.167

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

GnomAD4 genome AF: 0.173 AC: 26318 AN: 152142 Hom.: 3148 Cov.: 33 AF XY: 0.176 AC XY: 13070 AN XY: 74378

African (AFR) AF: 0.308 AC: 12777 AN: 41464

American (AMR) AF: 0.255 AC: 3896 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0980 AC: 340 AN: 3470

East Asian (EAS) AF: 0.206 AC: 1062 AN: 5164

South Asian (SAS) AF: 0.232 AC: 1118 AN: 4822

European-Finnish (FIN) AF: 0.0721 AC: 765 AN: 10614

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.0873 AC: 5938 AN: 68004

Other (OTH) AF: 0.172 AC: 364 AN: 2112

Alfa AF: 0.114 Hom.: 336

Bravo AF: 0.193

Asia WGS AF: 0.213 AC: 739 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.4
DANN	Benign	0.55
PhyloP100		0.046

Splicing

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

Other links and lift over

dbSNP: rs217148; hg19: chr7-31551684;