rs6902723

Variant names:

• chr6-32764183-G-A
• rs6902723

Your query was ambiguous. Multiple possible variants found:

• chr6-32764183-G-A
• chr6-32764183-G-C
• chr6-32764183-G-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 0.551 in 151,942 control chromosomes in the GnomAD database, including 23,483 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 0.55 (23483 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.390
• Publications: 29 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 (EAS) allele frequency at 95% confidence interval = 0.69 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: 0.551 AC: 83718 AN: 151822 Hom.: 23463 Cov.: 32

Gnomad AFR AF: 0.608

Gnomad AMI AF: 0.682

Gnomad AMR AF: 0.586

Gnomad ASJ AF: 0.562

Gnomad EAS AF: 0.709

Gnomad SAS AF: 0.594

Gnomad FIN AF: 0.544

Gnomad MID AF: 0.586

Gnomad NFE AF: 0.492

Gnomad OTH AF: 0.595

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

GnomAD4 genome AF: 0.551 AC: 83793 AN: 151942 Hom.: 23483 Cov.: 32 AF XY: 0.556 AC XY: 41268 AN XY: 74254

African (AFR) AF: 0.608 AC: 25182 AN: 41442

American (AMR) AF: 0.586 AC: 8946 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.562 AC: 1947 AN: 3464

East Asian (EAS) AF: 0.709 AC: 3662 AN: 5166

South Asian (SAS) AF: 0.594 AC: 2847 AN: 4796

European-Finnish (FIN) AF: 0.544 AC: 5730 AN: 10528

Middle Eastern (MID) AF: 0.602 AC: 177 AN: 294

European-Non Finnish (NFE) AF: 0.492 AC: 33412 AN: 67956

Other (OTH) AF: 0.601 AC: 1268 AN: 2110

Alfa AF: 0.508 Hom.: 58825

Bravo AF: 0.564

Asia WGS AF: 0.620 AC: 2152 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.0
DANN	Benign	0.53
PhyloP100		0.39

Splicing

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

Other links and lift over

dbSNP: rs6902723; hg19: chr6-32731960;