chr7-68861673-G-A

Variant names:

• chr7-68861673-G-A
• rs10237067

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 0.656 in 152,028 control chromosomes in the GnomAD database, including 32,959 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 0.66 (32959 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.374
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.732 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: 0.656 AC: 99578 AN: 151910 Hom.: 32931 Cov.: 32

Gnomad AFR AF: 0.706

Gnomad AMI AF: 0.594

Gnomad AMR AF: 0.743

Gnomad ASJ AF: 0.552

Gnomad EAS AF: 0.690

Gnomad SAS AF: 0.581

Gnomad FIN AF: 0.645

Gnomad MID AF: 0.627

Gnomad NFE AF: 0.616

Gnomad OTH AF: 0.650

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

GnomAD4 genome AF: 0.656 AC: 99659 AN: 152028 Hom.: 32959 Cov.: 32 AF XY: 0.658 AC XY: 48836 AN XY: 74272

African (AFR) AF: 0.706 AC: 29262 AN: 41476

American (AMR) AF: 0.743 AC: 11356 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.552 AC: 1913 AN: 3468

East Asian (EAS) AF: 0.689 AC: 3546 AN: 5148

South Asian (SAS) AF: 0.582 AC: 2796 AN: 4808

European-Finnish (FIN) AF: 0.645 AC: 6812 AN: 10558

Middle Eastern (MID) AF: 0.620 AC: 181 AN: 292

European-Non Finnish (NFE) AF: 0.616 AC: 41877 AN: 67988

Other (OTH) AF: 0.653 AC: 1378 AN: 2110

Alfa AF: 0.631 Hom.: 121530

Bravo AF: 0.668

Asia WGS AF: 0.657 AC: 2285 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.84
DANN	Benign	0.52
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs10237067; hg19: chr7-68326660;