rs6973609

Variant names:

• chr7-35567623-G-A
• rs6973609

Your query was ambiguous. Multiple possible variants found:

• chr7-35567623-G-A
• chr7-35567623-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 0.482 in 152,056 control chromosomes in the GnomAD database, including 18,575 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 0.48 (18575 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.48
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.722 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.482 AC: 73182 AN: 151938 Hom.: 18548 Cov.: 32

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.481

Gnomad AMR AF: 0.507

Gnomad ASJ AF: 0.506

Gnomad EAS AF: 0.742

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.482 AC: 73253 AN: 152056 Hom.: 18575 Cov.: 32 AF XY: 0.485 AC XY: 36034 AN XY: 74334

African (AFR) AF: 0.577 AC: 23941 AN: 41466

American (AMR) AF: 0.507 AC: 7737 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.506 AC: 1756 AN: 3472

East Asian (EAS) AF: 0.742 AC: 3835 AN: 5170

South Asian (SAS) AF: 0.728 AC: 3508 AN: 4816

European-Finnish (FIN) AF: 0.332 AC: 3512 AN: 10570

Middle Eastern (MID) AF: 0.534 AC: 157 AN: 294

European-Non Finnish (NFE) AF: 0.402 AC: 27297 AN: 67976

Other (OTH) AF: 0.508 AC: 1073 AN: 2114

Alfa AF: 0.461 Hom.: 10891

Bravo AF: 0.500

Asia WGS AF: 0.730 AC: 2539 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.048
DANN	Benign	0.49
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs6973609; hg19: chr7-35607233;