rs9381981

Variant names:

• chr6-51519369-T-A
• rs9381981

Your query was ambiguous. Multiple possible variants found:

• chr6-51519369-T-A
• chr6-51519369-T-C

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 0.378 in 151,968 control chromosomes in the GnomAD database, including 10,896 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 0.38 (10896 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.331
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.402 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: 0.378 AC: 57342 AN: 151850 Hom.: 10892 Cov.: 31

Gnomad AFR AF: 0.369

Gnomad AMI AF: 0.604

Gnomad AMR AF: 0.304

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.399

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.335

Gnomad NFE AF: 0.406

Gnomad OTH AF: 0.376

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

GnomAD4 genome AF: 0.378 AC: 57372 AN: 151968 Hom.: 10896 Cov.: 31 AF XY: 0.372 AC XY: 27649 AN XY: 74288

African (AFR) AF: 0.369 AC: 15299 AN: 41436

American (AMR) AF: 0.303 AC: 4629 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.343 AC: 1190 AN: 3470

East Asian (EAS) AF: 0.399 AC: 2060 AN: 5158

South Asian (SAS) AF: 0.308 AC: 1485 AN: 4820

European-Finnish (FIN) AF: 0.347 AC: 3660 AN: 10560

Middle Eastern (MID) AF: 0.344 AC: 101 AN: 294

European-Non Finnish (NFE) AF: 0.406 AC: 27611 AN: 67952

Other (OTH) AF: 0.376 AC: 791 AN: 2106

Alfa AF: 0.261 Hom.: 612

Bravo AF: 0.376

Asia WGS AF: 0.337 AC: 1171 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.6
DANN	Benign	0.72
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs9381981; hg19: chr6-51384167;