rs7743338

Variant names:

• chr6-80962233-G-A
• rs7743338

Your query was ambiguous. Multiple possible variants found:

• chr6-80962233-G-A
• chr6-80962233-G-C
• chr6-80962233-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 0.494 in 151,480 control chromosomes in the GnomAD database, including 19,407 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 0.49 (19407 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.252

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.665 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: 0.493 AC: 74683 AN: 151362 Hom.: 19341 Cov.: 31

Gnomad AFR AF: 0.650

Gnomad AMI AF: 0.397

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.393

Gnomad EAS AF: 0.684

Gnomad SAS AF: 0.609

Gnomad FIN AF: 0.444

Gnomad MID AF: 0.439

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.494 AC: 74802 AN: 151480 Hom.: 19407 Cov.: 31 AF XY: 0.499 AC XY: 36949 AN XY: 73978

Gnomad4 AFR AF: 0.651

Gnomad4 AMR AF: 0.460

Gnomad4 ASJ AF: 0.393

Gnomad4 EAS AF: 0.684

Gnomad4 SAS AF: 0.607

Gnomad4 FIN AF: 0.444

Gnomad4 NFE AF: 0.397

Gnomad4 OTH AF: 0.485

Alfa AF: 0.436 Hom.: 1818

Bravo AF: 0.499

Asia WGS AF: 0.656 AC: 2274 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7743338; hg19: chr6-81671950;