rs7739700

Variant names:

• chr6-132633824-G-A
• rs7739700

Your query was ambiguous. Multiple possible variants found:

• chr6-132633824-G-A
• chr6-132633824-G-T

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 0.339 in 151,988 control chromosomes in the GnomAD database, including 9,212 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 0.34 (9212 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.454 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: 0.339 AC: 51499 AN: 151872 Hom.: 9208 Cov.: 31

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.441

Gnomad AMR AF: 0.314

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.387

Gnomad OTH AF: 0.325

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

GnomAD4 genome AF: 0.339 AC: 51533 AN: 151988 Hom.: 9212 Cov.: 31 AF XY: 0.341 AC XY: 25343 AN XY: 74274

Gnomad4 AFR AF: 0.237

Gnomad4 AMR AF: 0.314

Gnomad4 ASJ AF: 0.332

Gnomad4 EAS AF: 0.470

Gnomad4 SAS AF: 0.376

Gnomad4 FIN AF: 0.380

Gnomad4 NFE AF: 0.387

Gnomad4 OTH AF: 0.329

Alfa AF: 0.272 Hom.: 1121

Bravo AF: 0.328

Asia WGS AF: 0.401 AC: 1391 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	0.84
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7739700; hg19: chr6-132954963; COSMIC: COSV58605478;