rs208872

Variant names:

• chr6-129763223-C-A
• rs208872

Your query was ambiguous. Multiple possible variants found:

• chr6-129763223-C-A
• chr6-129763223-C-G
• chr6-129763223-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.93 (47936 hom., cov: 13)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.813

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.97 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: 0.926 AC: 103151 AN: 111438 Hom.: 47887 Cov.: 13

Gnomad AFR AF: 0.920

Gnomad AMI AF: 0.865

Gnomad AMR AF: 0.931

Gnomad ASJ AF: 0.944

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.972

Gnomad FIN AF: 0.921

Gnomad MID AF: 0.869

Gnomad NFE AF: 0.921

Gnomad OTH AF: 0.914

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

GnomAD4 genome AF: 0.926 AC: 103258 AN: 111554 Hom.: 47936 Cov.: 13 AF XY: 0.925 AC XY: 48973 AN XY: 52916

Gnomad4 AFR AF: 0.920

Gnomad4 AMR AF: 0.931

Gnomad4 ASJ AF: 0.944

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.972

Gnomad4 FIN AF: 0.921

Gnomad4 NFE AF: 0.921

Gnomad4 OTH AF: 0.916

Alfa AF: 0.917 Hom.: 69161

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.52
DANN	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs208872; hg19: chr6-130084368;