rs891437

Variant names:

• chr11-121354067-G-A
• rs891437
• ENST00000761170.1:n.328+14582C>T

Your query was ambiguous. Multiple possible variants found:

• chr11-121354067-G-A
• chr11-121354067-G-C

Variant summary

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

The ENST00000761170.1(ENSG00000299150):​n.328+14582C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.556 in 151,982 control chromosomes in the GnomAD database, including 26,741 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 0.56 (26741 hom., cov: 31)
• Consequence: ENSG00000299150 ENST00000761170.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0300
• Publications: 9 publications found

Genes affected

ENSG00000299150 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.685 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000761170.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000299150	ENST00000761170.1		n.328+14582C>T		intron	N/A
	ENSG00000299150	ENST00000761171.1		n.215+14582C>T		intron	N/A
	ENSG00000299150	ENST00000761172.1		n.197+14582C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.556 AC: 84486 AN: 151864 Hom.: 26726 Cov.: 31

Gnomad AFR AF: 0.229

Gnomad AMI AF: 0.559

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.680

Gnomad EAS AF: 0.652

Gnomad SAS AF: 0.613

Gnomad FIN AF: 0.702

Gnomad MID AF: 0.663

Gnomad NFE AF: 0.690

Gnomad OTH AF: 0.594

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

GnomAD4 genome AF: 0.556 AC: 84520 AN: 151982 Hom.: 26741 Cov.: 31 AF XY: 0.559 AC XY: 41491 AN XY: 74270

African (AFR) AF: 0.229 AC: 9492 AN: 41434

American (AMR) AF: 0.659 AC: 10053 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.680 AC: 2360 AN: 3472

East Asian (EAS) AF: 0.651 AC: 3363 AN: 5168

South Asian (SAS) AF: 0.613 AC: 2947 AN: 4806

European-Finnish (FIN) AF: 0.702 AC: 7418 AN: 10562

Middle Eastern (MID) AF: 0.655 AC: 190 AN: 290

European-Non Finnish (NFE) AF: 0.690 AC: 46926 AN: 67972

Other (OTH) AF: 0.599 AC: 1262 AN: 2108

Alfa AF: 0.651 Hom.: 63617

Bravo AF: 0.544

Asia WGS AF: 0.653 AC: 2271 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.2
DANN	Benign	0.18
PhyloP100		0.030

Splicing

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

Other links and lift over

dbSNP: rs891437; hg19: chr11-121224776;