rs7669710

Variant names:

• chr4-27371594-G-A
• rs7669710

Your query was ambiguous. Multiple possible variants found:

• chr4-27371594-G-A
• chr4-27371594-G-C
• chr4-27371594-G-T

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 0.384 in 151,994 control chromosomes in the GnomAD database, including 12,411 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 0.38 (12411 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.118
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.723 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: 0.384 AC: 58277 AN: 151876 Hom.: 12403 Cov.: 32

Gnomad AFR AF: 0.214

Gnomad AMI AF: 0.398

Gnomad AMR AF: 0.464

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.743

Gnomad SAS AF: 0.619

Gnomad FIN AF: 0.426

Gnomad MID AF: 0.318

Gnomad NFE AF: 0.418

Gnomad OTH AF: 0.387

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

GnomAD4 genome AF: 0.384 AC: 58311 AN: 151994 Hom.: 12411 Cov.: 32 AF XY: 0.390 AC XY: 28964 AN XY: 74288

African (AFR) AF: 0.214 AC: 8858 AN: 41454

American (AMR) AF: 0.465 AC: 7091 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.395 AC: 1371 AN: 3468

East Asian (EAS) AF: 0.743 AC: 3834 AN: 5162

South Asian (SAS) AF: 0.618 AC: 2978 AN: 4818

European-Finnish (FIN) AF: 0.426 AC: 4498 AN: 10564

Middle Eastern (MID) AF: 0.325 AC: 95 AN: 292

European-Non Finnish (NFE) AF: 0.418 AC: 28408 AN: 67970

Other (OTH) AF: 0.388 AC: 817 AN: 2108

Alfa AF: 0.401 Hom.: 2289

Bravo AF: 0.379

Asia WGS AF: 0.615 AC: 2134 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.8
DANN	Benign	0.46
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs7669710; hg19: chr4-27373216;