rs9267947

Variant names:

• chr6-32243441-A-G
• rs9267947

Your query was ambiguous. Multiple possible variants found:

• chr6-32243441-A-G
• chr6-32243441-A-T

Variant summary

Our verdict is Benign. The variant received -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 0.64 (23321 hom., cov: 16)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 28 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 = 0.818 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: 0.635 AC: 76800 AN: 120936 Hom.: 23277 Cov.: 16

Gnomad AFR AF: 0.825

Gnomad AMI AF: 0.569

Gnomad AMR AF: 0.588

Gnomad ASJ AF: 0.500

Gnomad EAS AF: 0.662

Gnomad SAS AF: 0.612

Gnomad FIN AF: 0.626

Gnomad MID AF: 0.597

Gnomad NFE AF: 0.532

Gnomad OTH AF: 0.641

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

GnomAD4 genome AF: 0.635 AC: 76883 AN: 121020 Hom.: 23321 Cov.: 16 AF XY: 0.639 AC XY: 36816 AN XY: 57652

African (AFR) AF: 0.826 AC: 28966 AN: 35086

American (AMR) AF: 0.588 AC: 6242 AN: 10620

Ashkenazi Jewish (ASJ) AF: 0.500 AC: 1392 AN: 2782

East Asian (EAS) AF: 0.662 AC: 2657 AN: 4016

South Asian (SAS) AF: 0.612 AC: 2075 AN: 3392

European-Finnish (FIN) AF: 0.626 AC: 4681 AN: 7478

Middle Eastern (MID) AF: 0.595 AC: 138 AN: 232

European-Non Finnish (NFE) AF: 0.531 AC: 29232 AN: 55000

Other (OTH) AF: 0.646 AC: 1057 AN: 1636

Alfa AF: 0.487 Hom.: 52288

Bravo AF: 0.574

Asia WGS AF: 0.621 AC: 2135 AN: 3446

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.2
DANN	Benign	0.42
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs9267947; hg19: chr6-32211218; COSMIC: COSV50756306;