rs6900017

Variant names:

• chr6-43790748-C-T
• rs6900017

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 0.131 in 152,158 control chromosomes in the GnomAD database, including 1,704 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 0.13 (1704 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.192
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.24 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: 0.131 AC: 19848 AN: 152040 Hom.: 1701 Cov.: 32

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.0877

Gnomad ASJ AF: 0.0911

Gnomad EAS AF: 0.170

Gnomad SAS AF: 0.142

Gnomad FIN AF: 0.0689

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.0803

Gnomad OTH AF: 0.134

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

GnomAD4 genome AF: 0.131 AC: 19866 AN: 152158 Hom.: 1704 Cov.: 32 AF XY: 0.130 AC XY: 9671 AN XY: 74416

African (AFR) AF: 0.244 AC: 10116 AN: 41484

American (AMR) AF: 0.0875 AC: 1338 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0911 AC: 316 AN: 3468

East Asian (EAS) AF: 0.170 AC: 879 AN: 5170

South Asian (SAS) AF: 0.141 AC: 679 AN: 4824

European-Finnish (FIN) AF: 0.0689 AC: 730 AN: 10598

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.0804 AC: 5466 AN: 68010

Other (OTH) AF: 0.136 AC: 287 AN: 2112

Alfa AF: 0.0948 Hom.: 3537

Bravo AF: 0.136

Asia WGS AF: 0.169 AC: 589 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.1
DANN	Benign	0.66
PhyloP100		-0.19

Splicing

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

Other links and lift over

dbSNP: rs6900017; hg19: chr6-43758485;