rs29234

Variant names:

• chr6-29656335-A-C
• rs29234

Your query was ambiguous. Multiple possible variants found:

• chr6-29656335-A-C
• chr6-29656335-A-G
• chr6-29656335-A-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 0.0862 in 152,198 control chromosomes in the GnomAD database, including 837 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 0.086 (837 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.166 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: 0.0861 AC: 13095 AN: 152080 Hom.: 835 Cov.: 32

Gnomad AFR AF: 0.170

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.108

Gnomad ASJ AF: 0.0799

Gnomad EAS AF: 0.00924

Gnomad SAS AF: 0.0213

Gnomad FIN AF: 0.0160

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.0527

Gnomad OTH AF: 0.0996

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

GnomAD4 genome AF: 0.0862 AC: 13115 AN: 152198 Hom.: 837 Cov.: 32 AF XY: 0.0821 AC XY: 6112 AN XY: 74428

African (AFR) AF: 0.170 AC: 7037 AN: 41506

American (AMR) AF: 0.109 AC: 1659 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0799 AC: 277 AN: 3466

East Asian (EAS) AF: 0.00926 AC: 48 AN: 5184

South Asian (SAS) AF: 0.0213 AC: 103 AN: 4826

European-Finnish (FIN) AF: 0.0160 AC: 170 AN: 10614

Middle Eastern (MID) AF: 0.0952 AC: 28 AN: 294

European-Non Finnish (NFE) AF: 0.0527 AC: 3584 AN: 68008

Other (OTH) AF: 0.0981 AC: 207 AN: 2110

Alfa AF: 0.0634 Hom.: 1660

Bravo AF: 0.100

Asia WGS AF: 0.0270 AC: 95 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.6
DANN	Benign	0.55
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs29234; hg19: chr6-29624112;