rs6948622

Variant names:

• chr7-145715015-G-A
• rs6948622

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 0.328 in 151,920 control chromosomes in the GnomAD database, including 8,286 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 0.33 (8286 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.696
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.342 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: 0.328 AC: 49763 AN: 151800 Hom.: 8276 Cov.: 31

Gnomad AFR AF: 0.334

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.270

Gnomad ASJ AF: 0.306

Gnomad EAS AF: 0.216

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.346

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.328 AC: 49803 AN: 151920 Hom.: 8286 Cov.: 31 AF XY: 0.327 AC XY: 24257 AN XY: 74238

African (AFR) AF: 0.334 AC: 13838 AN: 41404

American (AMR) AF: 0.270 AC: 4117 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.306 AC: 1064 AN: 3472

East Asian (EAS) AF: 0.216 AC: 1108 AN: 5140

South Asian (SAS) AF: 0.221 AC: 1062 AN: 4810

European-Finnish (FIN) AF: 0.380 AC: 4009 AN: 10554

Middle Eastern (MID) AF: 0.282 AC: 83 AN: 294

European-Non Finnish (NFE) AF: 0.346 AC: 23505 AN: 67960

Other (OTH) AF: 0.318 AC: 669 AN: 2104

Alfa AF: 0.335 Hom.: 22470

Bravo AF: 0.320

Asia WGS AF: 0.210 AC: 730 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.37
DANN	Benign	0.47
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs6948622; hg19: chr7-145412108;