rs4327688

Variant names:

• chr6-23890649-T-C
• rs4327688

Your query was ambiguous. Multiple possible variants found:

• chr6-23890649-T-C
• chr6-23890649-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 0.307 in 151,874 control chromosomes in the GnomAD database, including 7,412 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 0.31 (7412 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0200
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.337 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: 0.307 AC: 46566 AN: 151756 Hom.: 7410 Cov.: 31

Gnomad AFR AF: 0.342

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.229

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.0582

Gnomad SAS AF: 0.261

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.321

Gnomad OTH AF: 0.312

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

GnomAD4 genome AF: 0.307 AC: 46598 AN: 151874 Hom.: 7412 Cov.: 31 AF XY: 0.305 AC XY: 22611 AN XY: 74178

African (AFR) AF: 0.342 AC: 14157 AN: 41424

American (AMR) AF: 0.228 AC: 3485 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.307 AC: 1064 AN: 3468

East Asian (EAS) AF: 0.0584 AC: 301 AN: 5156

South Asian (SAS) AF: 0.262 AC: 1260 AN: 4810

European-Finnish (FIN) AF: 0.332 AC: 3506 AN: 10552

Middle Eastern (MID) AF: 0.296 AC: 87 AN: 294

European-Non Finnish (NFE) AF: 0.321 AC: 21826 AN: 67906

Other (OTH) AF: 0.309 AC: 651 AN: 2104

Alfa AF: 0.308 Hom.: 22822

Bravo AF: 0.298

Asia WGS AF: 0.182 AC: 630 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.9
DANN	Benign	0.63
PhyloP100		0.020

Splicing

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

Other links and lift over

dbSNP: rs4327688; hg19: chr6-23890877;