rs7658327

Variant names:

• chr4-135190295-C-A
• rs7658327

Your query was ambiguous. Multiple possible variants found:

• chr4-135190295-C-A
• chr4-135190295-C-G

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 0.661 in 151,810 control chromosomes in the GnomAD database, including 33,581 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 0.66 (33581 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.38
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.752 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: 0.661 AC: 100241 AN: 151692 Hom.: 33549 Cov.: 32

Gnomad AFR AF: 0.566

Gnomad AMI AF: 0.615

Gnomad AMR AF: 0.756

Gnomad ASJ AF: 0.617

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.651

Gnomad FIN AF: 0.753

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.678

Gnomad OTH AF: 0.676

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

GnomAD4 genome AF: 0.661 AC: 100328 AN: 151810 Hom.: 33581 Cov.: 32 AF XY: 0.667 AC XY: 49476 AN XY: 74204

African (AFR) AF: 0.566 AC: 23433 AN: 41422

American (AMR) AF: 0.756 AC: 11543 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.617 AC: 2140 AN: 3466

East Asian (EAS) AF: 0.772 AC: 3972 AN: 5146

South Asian (SAS) AF: 0.651 AC: 3130 AN: 4808

European-Finnish (FIN) AF: 0.753 AC: 7908 AN: 10498

Middle Eastern (MID) AF: 0.639 AC: 188 AN: 294

European-Non Finnish (NFE) AF: 0.678 AC: 46014 AN: 67890

Other (OTH) AF: 0.681 AC: 1439 AN: 2114

Alfa AF: 0.671 Hom.: 98390

Bravo AF: 0.660

Asia WGS AF: 0.730 AC: 2522 AN: 3458

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	7.9
DANN	Benign	0.53
PhyloP100		1.4

Splicing

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

Other links and lift over

dbSNP: rs7658327; hg19: chr4-136111450;