rs1722601

Variant names:

• chr7-63474056-G-A
• rs1722601

Your query was ambiguous. Multiple possible variants found:

• chr7-63474056-G-A
• chr7-63474056-G-C

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 0.588 in 151,396 control chromosomes in the GnomAD database, including 27,048 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 0.59 (27048 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.32
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.822 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: 0.587 AC: 88863 AN: 151278 Hom.: 26985 Cov.: 30

Gnomad AFR AF: 0.699

Gnomad AMI AF: 0.387

Gnomad AMR AF: 0.654

Gnomad ASJ AF: 0.534

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.582

Gnomad FIN AF: 0.596

Gnomad MID AF: 0.503

Gnomad NFE AF: 0.492

Gnomad OTH AF: 0.569

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

GnomAD4 genome AF: 0.588 AC: 88987 AN: 151396 Hom.: 27048 Cov.: 30 AF XY: 0.596 AC XY: 44116 AN XY: 73960

African (AFR) AF: 0.699 AC: 28724 AN: 41076

American (AMR) AF: 0.654 AC: 9940 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.534 AC: 1848 AN: 3462

East Asian (EAS) AF: 0.843 AC: 4335 AN: 5142

South Asian (SAS) AF: 0.583 AC: 2792 AN: 4792

European-Finnish (FIN) AF: 0.596 AC: 6266 AN: 10522

Middle Eastern (MID) AF: 0.503 AC: 147 AN: 292

European-Non Finnish (NFE) AF: 0.492 AC: 33376 AN: 67904

Other (OTH) AF: 0.575 AC: 1206 AN: 2098

Alfa AF: 0.537 Hom.: 2790

Bravo AF: 0.599

Asia WGS AF: 0.732 AC: 2544 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.4
DANN	Benign	0.31
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1722601; hg19: chr7-62934434;