8-41311757-T-C

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 0.316 in 151,952 control chromosomes in the GnomAD database, including 9,178 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 0.32 (9178 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.724

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.432 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: 0.317 AC: 48057 AN: 151834 Hom.: 9185 Cov.: 32

Gnomad AFR AF: 0.0939

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.389

Gnomad ASJ AF: 0.277

Gnomad EAS AF: 0.447

Gnomad SAS AF: 0.429

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.316 AC: 48058 AN: 151952 Hom.: 9178 Cov.: 32 AF XY: 0.325 AC XY: 24090 AN XY: 74226

Gnomad4 AFR AF: 0.0936

Gnomad4 AMR AF: 0.389

Gnomad4 ASJ AF: 0.277

Gnomad4 EAS AF: 0.447

Gnomad4 SAS AF: 0.429

Gnomad4 FIN AF: 0.458

Gnomad4 NFE AF: 0.399

Gnomad4 OTH AF: 0.308

Alfa AF: 0.355 Hom.: 1341

Bravo AF: 0.298

Asia WGS AF: 0.402 AC: 1396 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	3.9
Dann	Benign	0.27

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs921142; hg19: chr8-41169276;