rs6950982

Variant names:

• chr7-101123322-A-G
• rs6950982

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 0.187 in 152,108 control chromosomes in the GnomAD database, including 3,428 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 0.19 (3428 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.370
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.332 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: 0.187 AC: 28378 AN: 151988 Hom.: 3418 Cov.: 31

Gnomad AFR AF: 0.0639

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.339

Gnomad ASJ AF: 0.204

Gnomad EAS AF: 0.153

Gnomad SAS AF: 0.180

Gnomad FIN AF: 0.283

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.215

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.187 AC: 28398 AN: 152108 Hom.: 3428 Cov.: 31 AF XY: 0.192 AC XY: 14309 AN XY: 74362

African (AFR) AF: 0.0637 AC: 2647 AN: 41530

American (AMR) AF: 0.340 AC: 5171 AN: 15220

Ashkenazi Jewish (ASJ) AF: 0.204 AC: 708 AN: 3470

East Asian (EAS) AF: 0.153 AC: 794 AN: 5178

South Asian (SAS) AF: 0.181 AC: 873 AN: 4822

European-Finnish (FIN) AF: 0.283 AC: 2991 AN: 10584

Middle Eastern (MID) AF: 0.265 AC: 78 AN: 294

European-Non Finnish (NFE) AF: 0.215 AC: 14649 AN: 67988

Other (OTH) AF: 0.209 AC: 442 AN: 2110

Alfa AF: 0.209 Hom.: 11781

Bravo AF: 0.184

Asia WGS AF: 0.168 AC: 583 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.9
DANN	Benign	0.46
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs6950982; hg19: chr7-100766603;