rs2071521

Variant names:

• chr11-116827132-G-A
• rs2071521
• ENST00000814126.1:n.136-1033G>A

Your query was ambiguous. Multiple possible variants found:

• chr11-116827132-G-A
• chr11-116827132-G-C

Variant summary

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

The ENST00000814126.1(ENSG00000305923):​n.136-1033G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.527 in 152,106 control chromosomes in the GnomAD database, including 22,501 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 0.53 (22501 hom., cov: 33)
• Consequence: ENSG00000305923 ENST00000814126.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0320
• Publications: 11 publications found

Genes affected

ENSG00000305923 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.624 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
ENSG00000305923	ENST00000814126.1	n.136-1033G>A		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.527 AC: 80092 AN: 151988 Hom.: 22503 Cov.: 33

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.488

Gnomad FIN AF: 0.587

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.548

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

GnomAD4 genome AF: 0.527 AC: 80112 AN: 152106 Hom.: 22501 Cov.: 33 AF XY: 0.522 AC XY: 38796 AN XY: 74362

African (AFR) AF: 0.316 AC: 13104 AN: 41488

American (AMR) AF: 0.566 AC: 8659 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.551 AC: 1910 AN: 3468

East Asian (EAS) AF: 0.615 AC: 3168 AN: 5154

South Asian (SAS) AF: 0.487 AC: 2349 AN: 4824

European-Finnish (FIN) AF: 0.587 AC: 6220 AN: 10594

Middle Eastern (MID) AF: 0.548 AC: 161 AN: 294

European-Non Finnish (NFE) AF: 0.629 AC: 42765 AN: 67962

Other (OTH) AF: 0.548 AC: 1158 AN: 2112

Alfa AF: 0.583 Hom.: 35638

Bravo AF: 0.525

Asia WGS AF: 0.537 AC: 1869 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.5
DANN	Benign	0.72
PhyloP100		0.032

Splicing

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

Other links and lift over

dbSNP: rs2071521; hg19: chr11-116697848;