rs9347131

Variant names:

• chr6-158213846-T-C
• rs9347131

Your query was ambiguous. Multiple possible variants found:

• chr6-158213846-T-C
• chr6-158213846-T-G

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 0.135 in 152,234 control chromosomes in the GnomAD database, including 1,963 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 (1963 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.78
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.398 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: 0.134 AC: 20430 AN: 152116 Hom.: 1949 Cov.: 32

Gnomad AFR AF: 0.131

Gnomad AMI AF: 0.0691

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.0487

Gnomad EAS AF: 0.413

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.0977

Gnomad MID AF: 0.0828

Gnomad NFE AF: 0.0894

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.135 AC: 20485 AN: 152234 Hom.: 1963 Cov.: 32 AF XY: 0.139 AC XY: 10351 AN XY: 74440

African (AFR) AF: 0.132 AC: 5465 AN: 41536

American (AMR) AF: 0.294 AC: 4488 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0487 AC: 169 AN: 3470

East Asian (EAS) AF: 0.412 AC: 2132 AN: 5170

South Asian (SAS) AF: 0.155 AC: 751 AN: 4830

European-Finnish (FIN) AF: 0.0977 AC: 1037 AN: 10612

Middle Eastern (MID) AF: 0.0822 AC: 24 AN: 292

European-Non Finnish (NFE) AF: 0.0894 AC: 6079 AN: 68010

Other (OTH) AF: 0.131 AC: 277 AN: 2112

Alfa AF: 0.104 Hom.: 2143

Bravo AF: 0.152

Asia WGS AF: 0.260 AC: 904 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.14
DANN	Benign	0.39
PhyloP100		-4.8

Splicing

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

Other links and lift over

dbSNP: rs9347131; hg19: chr6-158634878;