7-67967834-G-C

Position:

• chr7-67967834-G-C

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 0.678 in 151,796 control chromosomes in the GnomAD database, including 35,831 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 0.68 (35831 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.789 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: 0.678 AC: 102818 AN: 151676 Hom.: 35808 Cov.: 31

Gnomad AFR AF: 0.505

Gnomad AMI AF: 0.701

Gnomad AMR AF: 0.771

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.809

Gnomad SAS AF: 0.643

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.637

Gnomad NFE AF: 0.733

Gnomad OTH AF: 0.679

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

GnomAD4 genome AF: 0.678 AC: 102874 AN: 151796 Hom.: 35831 Cov.: 31 AF XY: 0.681 AC XY: 50488 AN XY: 74150

Gnomad4 AFR AF: 0.505

Gnomad4 AMR AF: 0.772

Gnomad4 ASJ AF: 0.766

Gnomad4 EAS AF: 0.809

Gnomad4 SAS AF: 0.644

Gnomad4 FIN AF: 0.783

Gnomad4 NFE AF: 0.733

Gnomad4 OTH AF: 0.679

Alfa AF: 0.699 Hom.: 4670

Bravo AF: 0.673

Asia WGS AF: 0.712 AC: 2474 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	0.72
DANN	Benign	0.18

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7811301; hg19: chr7-67432821;