rs1871841

Variant names:

• chr8-13772537-G-C
• rs1871841

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 0.591 in 150,122 control chromosomes in the GnomAD database, including 27,471 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 0.59 (27471 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.686
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.69 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: 0.591 AC: 88699 AN: 150010 Hom.: 27453 Cov.: 32

Gnomad AFR AF: 0.477

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.700

Gnomad ASJ AF: 0.572

Gnomad EAS AF: 0.541

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.660

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.625

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.591 AC: 88739 AN: 150122 Hom.: 27471 Cov.: 32 AF XY: 0.598 AC XY: 43810 AN XY: 73316

African (AFR) AF: 0.477 AC: 19050 AN: 39948

American (AMR) AF: 0.701 AC: 10637 AN: 15164

Ashkenazi Jewish (ASJ) AF: 0.572 AC: 1984 AN: 3466

East Asian (EAS) AF: 0.542 AC: 2792 AN: 5150

South Asian (SAS) AF: 0.645 AC: 3107 AN: 4816

European-Finnish (FIN) AF: 0.660 AC: 6948 AN: 10528

Middle Eastern (MID) AF: 0.517 AC: 151 AN: 292

European-Non Finnish (NFE) AF: 0.625 AC: 42333 AN: 67750

Other (OTH) AF: 0.607 AC: 1274 AN: 2098

Alfa AF: 0.599 Hom.: 3495

Bravo AF: 0.585

Asia WGS AF: 0.595 AC: 2045 AN: 3440

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.51
DANN	Benign	0.50
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs1871841; hg19: chr8-13630046;