6-81354433-G-C

Variant names:

• chr6-81354433-G-C
• rs962984

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.438 in 151,558 control chromosomes in the GnomAD database, including 15,065 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 0.44 (15065 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.95
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.533 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: 0.439 AC: 66416 AN: 151434 Hom.: 15074 Cov.: 31

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.545

Gnomad AMR AF: 0.543

Gnomad ASJ AF: 0.416

Gnomad EAS AF: 0.449

Gnomad SAS AF: 0.435

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.422

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.426

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

GnomAD4 genome AF: 0.438 AC: 66416 AN: 151558 Hom.: 15065 Cov.: 31 AF XY: 0.442 AC XY: 32691 AN XY: 74030

African (AFR) AF: 0.316 AC: 13068 AN: 41364

American (AMR) AF: 0.542 AC: 8252 AN: 15214

Ashkenazi Jewish (ASJ) AF: 0.416 AC: 1442 AN: 3464

East Asian (EAS) AF: 0.449 AC: 2316 AN: 5162

South Asian (SAS) AF: 0.435 AC: 2093 AN: 4806

European-Finnish (FIN) AF: 0.517 AC: 5429 AN: 10492

Middle Eastern (MID) AF: 0.406 AC: 117 AN: 288

European-Non Finnish (NFE) AF: 0.477 AC: 32305 AN: 67746

Other (OTH) AF: 0.425 AC: 899 AN: 2114

Alfa AF: 0.312 Hom.: 835

Bravo AF: 0.436

Asia WGS AF: 0.407 AC: 1413 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.032
DANN	Benign	0.44
PhyloP100		-1.9

Splicing

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

Other links and lift over

dbSNP: rs962984; hg19: chr6-82064150;