rs6507929

Variant names:

• chr18-49549693-A-C
• rs6507929

Your query was ambiguous. Multiple possible variants found:

• chr18-49549693-A-C
• chr18-49549693-A-G
• chr18-49549693-A-T

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 0.828 in 151,670 control chromosomes in the GnomAD database, including 52,949 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 0.83 (52949 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.66
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.951 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.828 AC: 125536 AN: 151552 Hom.: 52898 Cov.: 27

Gnomad AFR AF: 0.958

Gnomad AMI AF: 0.840

Gnomad AMR AF: 0.670

Gnomad ASJ AF: 0.878

Gnomad EAS AF: 0.557

Gnomad SAS AF: 0.828

Gnomad FIN AF: 0.730

Gnomad MID AF: 0.939

Gnomad NFE AF: 0.817

Gnomad OTH AF: 0.845

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

GnomAD4 genome AF: 0.828 AC: 125639 AN: 151670 Hom.: 52949 Cov.: 27 AF XY: 0.822 AC XY: 60872 AN XY: 74058

African (AFR) AF: 0.958 AC: 39674 AN: 41394

American (AMR) AF: 0.669 AC: 10176 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.878 AC: 3045 AN: 3470

East Asian (EAS) AF: 0.557 AC: 2845 AN: 5112

South Asian (SAS) AF: 0.827 AC: 3949 AN: 4774

European-Finnish (FIN) AF: 0.730 AC: 7676 AN: 10514

Middle Eastern (MID) AF: 0.942 AC: 277 AN: 294

European-Non Finnish (NFE) AF: 0.817 AC: 55452 AN: 67900

Other (OTH) AF: 0.847 AC: 1781 AN: 2102

Alfa AF: 0.763 Hom.: 2311

Bravo AF: 0.825

Asia WGS AF: 0.725 AC: 2522 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.034
DANN	Benign	0.19
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs6507929; hg19: chr18-47076063;