7-8988208-C-A

Position:

• chr7-8988208-C-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 0.614 in 151,732 control chromosomes in the GnomAD database, including 28,686 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 0.61 (28686 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.01

ACMG classification

Verdict is Benign. Variant got -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 = 0.639 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.614 AC: 93099 AN: 151614 Hom.: 28649 Cov.: 30

Gnomad AFR AF: 0.637

Gnomad AMI AF: 0.520

Gnomad AMR AF: 0.583

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.657

Gnomad SAS AF: 0.614

Gnomad FIN AF: 0.590

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.612

Gnomad OTH AF: 0.606

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

GnomAD4 genome AF: 0.614 AC: 93194 AN: 151732 Hom.: 28686 Cov.: 30 AF XY: 0.612 AC XY: 45345 AN XY: 74136

Gnomad4 AFR AF: 0.637

Gnomad4 AMR AF: 0.583

Gnomad4 ASJ AF: 0.560

Gnomad4 EAS AF: 0.657

Gnomad4 SAS AF: 0.615

Gnomad4 FIN AF: 0.590

Gnomad4 NFE AF: 0.612

Gnomad4 OTH AF: 0.608

Alfa AF: 0.601 Hom.: 25381

Bravo AF: 0.611

Asia WGS AF: 0.631 AC: 2194 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.42
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6979515; hg19: chr7-9027838;