rs7763064

Variant names:

• chr6-142476152-G-A
• rs7763064

Your query was ambiguous. Multiple possible variants found:

• chr6-142476152-G-A
• chr6-142476152-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 0.381 in 151,972 control chromosomes in the GnomAD database, including 12,123 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 0.38 (12123 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.562 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: 0.381 AC: 57820 AN: 151854 Hom.: 12094 Cov.: 32

Gnomad AFR AF: 0.568

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.335

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.320

Gnomad FIN AF: 0.264

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.299

Gnomad OTH AF: 0.416

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

GnomAD4 genome AF: 0.381 AC: 57905 AN: 151972 Hom.: 12123 Cov.: 32 AF XY: 0.379 AC XY: 28128 AN XY: 74282

Gnomad4 AFR AF: 0.569

Gnomad4 AMR AF: 0.356

Gnomad4 ASJ AF: 0.335

Gnomad4 EAS AF: 0.353

Gnomad4 SAS AF: 0.320

Gnomad4 FIN AF: 0.264

Gnomad4 NFE AF: 0.299

Gnomad4 OTH AF: 0.418

Alfa AF: 0.320 Hom.: 10372

Bravo AF: 0.393

Asia WGS AF: 0.403 AC: 1399 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7763064; hg19: chr6-142797289;