11-3085429-C-T

Variant names:

• chr11-3085429-C-T
• rs2084239
• ENST00000431546.1:n.15G>A

Variant summary

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

The ENST00000431546.1(ENSG00000236710):​n.15G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.321 in 152,186 control chromosomes in the GnomAD database, including 9,854 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 0.32 (9853 hom., cov: 33)
  • Exomes 𝑓: 0.50 (1 hom.)
• Consequence: ENSG00000236710 ENST00000431546.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.320
• Publications: 8 publications found

Genes affected

ENSG00000236710 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.629 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000431546.1. 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
	ENSG00000236710	ENST00000431546.1	TSL:6	n.15G>A		non_coding_transcript_exon	Exon 1 of 2

Frequencies

GnomAD3 genomes AF: 0.321 AC: 48857 AN: 152064 Hom.: 9837 Cov.: 33

Gnomad AFR AF: 0.0867

Gnomad AMI AF: 0.364

Gnomad AMR AF: 0.479

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.648

Gnomad SAS AF: 0.444

Gnomad FIN AF: 0.313

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.351

GnomAD4 exome AF: 0.500 AC: 2 AN: 4 Hom.: 1 Cov.: 0 AF XY: 0.500 AC XY: 2 AN XY: 4

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.500 AC: 2 AN: 4

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.321 AC: 48879 AN: 152182 Hom.: 9853 Cov.: 33 AF XY: 0.326 AC XY: 24248 AN XY: 74398

African (AFR) AF: 0.0865 AC: 3593 AN: 41552

American (AMR) AF: 0.480 AC: 7342 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.408 AC: 1418 AN: 3472

East Asian (EAS) AF: 0.648 AC: 3345 AN: 5166

South Asian (SAS) AF: 0.443 AC: 2138 AN: 4824

European-Finnish (FIN) AF: 0.313 AC: 3317 AN: 10592

Middle Eastern (MID) AF: 0.354 AC: 104 AN: 294

European-Non Finnish (NFE) AF: 0.390 AC: 26539 AN: 67966

Other (OTH) AF: 0.355 AC: 751 AN: 2114

Alfa AF: 0.378 Hom.: 19312

Bravo AF: 0.322

Asia WGS AF: 0.522 AC: 1813 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.2
DANN	Benign	0.23
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs2084239; hg19: chr11-3106659;