rs7776340

chr6-151624531-C-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 0.501 in 151,848 control chromosomes in the GnomAD database, including 19,366 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 0.50 (19366 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.125

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.54 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: 0.501 AC: 76072 AN: 151732 Hom.: 19345 Cov.: 32

Gnomad AFR AF: 0.546

Gnomad AMI AF: 0.347

Gnomad AMR AF: 0.399

Gnomad ASJ AF: 0.553

Gnomad EAS AF: 0.412

Gnomad SAS AF: 0.515

Gnomad FIN AF: 0.449

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.510

Gnomad OTH AF: 0.512

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

GnomAD4 genome AF: 0.501 AC: 76133 AN: 151848 Hom.: 19366 Cov.: 32 AF XY: 0.495 AC XY: 36768 AN XY: 74218

Gnomad4 AFR AF: 0.546

Gnomad4 AMR AF: 0.398

Gnomad4 ASJ AF: 0.553

Gnomad4 EAS AF: 0.412

Gnomad4 SAS AF: 0.514

Gnomad4 FIN AF: 0.449

Gnomad4 NFE AF: 0.510

Gnomad4 OTH AF: 0.516

Alfa AF: 0.511 Hom.: 6518

Bravo AF: 0.499

Asia WGS AF: 0.486 AC: 1691 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	2.4
Dann	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7776340; hg19: chr6-151945666;