6-71688095-A-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 0.814 in 152,210 control chromosomes in the GnomAD database, including 50,644 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 0.81 (50644 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.838 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.814 AC: 123845 AN: 152092 Hom.: 50609 Cov.: 32

Gnomad AFR AF: 0.846

Gnomad AMI AF: 0.704

Gnomad AMR AF: 0.770

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.634

Gnomad SAS AF: 0.786

Gnomad FIN AF: 0.837

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.817

Gnomad OTH AF: 0.802

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

GnomAD4 genome AF: 0.814 AC: 123933 AN: 152210 Hom.: 50644 Cov.: 32 AF XY: 0.813 AC XY: 60497 AN XY: 74424

Gnomad4 AFR AF: 0.845

Gnomad4 AMR AF: 0.769

Gnomad4 ASJ AF: 0.859

Gnomad4 EAS AF: 0.635

Gnomad4 SAS AF: 0.787

Gnomad4 FIN AF: 0.837

Gnomad4 NFE AF: 0.817

Gnomad4 OTH AF: 0.801

Alfa AF: 0.795 Hom.: 2466

Bravo AF: 0.808

Asia WGS AF: 0.695 AC: 2418 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	1.0
Dann	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1321834; hg19: chr6-72397798;