rs6936004

Variant names:

• chr6-32889157-T-C
• rs6936004

Your query was ambiguous. Multiple possible variants found:

• chr6-32889157-T-C
• chr6-32889157-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.139 in 151,990 control chromosomes in the GnomAD database, including 1,715 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 0.14 (1715 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.218 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: 0.138 AC: 21017 AN: 151876 Hom.: 1711 Cov.: 32

Gnomad AFR AF: 0.221

Gnomad AMI AF: 0.0747

Gnomad AMR AF: 0.100

Gnomad ASJ AF: 0.183

Gnomad EAS AF: 0.0881

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.114

Gnomad MID AF: 0.124

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.139 AC: 21057 AN: 151990 Hom.: 1715 Cov.: 32 AF XY: 0.139 AC XY: 10338 AN XY: 74306

Gnomad4 AFR AF: 0.222

Gnomad4 AMR AF: 0.100

Gnomad4 ASJ AF: 0.183

Gnomad4 EAS AF: 0.0881

Gnomad4 SAS AF: 0.154

Gnomad4 FIN AF: 0.114

Gnomad4 NFE AF: 0.102

Gnomad4 OTH AF: 0.128

Alfa AF: 0.0461 Hom.: 34

Bravo AF: 0.138

Asia WGS AF: 0.145 AC: 504 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.91
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6936004; hg19: chr6-32856934;