7-67967834-G-C

Variant names:

• chr7-67967834-G-C
• rs7811301

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;