7-35567623-G-A

Position:

• chr7-35567623-G-A

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.577

Gnomad4 AMR AF: 0.507

Gnomad4 ASJ AF: 0.506

Gnomad4 EAS AF: 0.742

Gnomad4 SAS AF: 0.728

Gnomad4 FIN AF: 0.332

Gnomad4 NFE AF: 0.402

Gnomad4 OTH AF: 0.508

Alfa AF: 0.417 Hom.: 4507

Bravo AF: 0.500

Asia WGS AF: 0.730 AC: 2539 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6973609; hg19: chr7-35607233;