ENST00000612595.2:n.284-42775T>C

Variant names:

• chr15-95782414-T-C
• rs11856995
• ENST00000612595.2:n.284-42775T>C

Variant summary

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

The ENST00000612595.2(ENSG00000275016):​n.284-42775T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.23 in 152,110 control chromosomes in the GnomAD database, including 4,851 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 0.23 (4851 hom., cov: 32)
• Consequence: ENSG00000275016 ENST00000612595.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0490
• Publications: 5 publications found

Genes affected

ENSG00000275016 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.297 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000612595.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000275016	ENST00000612595.2	TSL:5	n.284-42775T>C		intron	N/A
	ENSG00000275016	ENST00000616588.4	TSL:5	n.251-27665T>C		intron	N/A
	ENSG00000275016	ENST00000656202.1		n.235-42775T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.230 AC: 34987 AN: 151990 Hom.: 4850 Cov.: 32

Gnomad AFR AF: 0.0815

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.295

Gnomad ASJ AF: 0.238

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.118

Gnomad FIN AF: 0.264

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.230 AC: 34998 AN: 152110 Hom.: 4851 Cov.: 32 AF XY: 0.226 AC XY: 16840 AN XY: 74364

African (AFR) AF: 0.0815 AC: 3385 AN: 41552

American (AMR) AF: 0.295 AC: 4504 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.238 AC: 824 AN: 3468

East Asian (EAS) AF: 0.296 AC: 1521 AN: 5146

South Asian (SAS) AF: 0.118 AC: 568 AN: 4828

European-Finnish (FIN) AF: 0.264 AC: 2792 AN: 10570

Middle Eastern (MID) AF: 0.286 AC: 84 AN: 294

European-Non Finnish (NFE) AF: 0.300 AC: 20397 AN: 67970

Other (OTH) AF: 0.265 AC: 560 AN: 2114

Alfa AF: 0.282 Hom.: 19401

Bravo AF: 0.227

Asia WGS AF: 0.187 AC: 648 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.4
DANN	Benign	0.60
PhyloP100		0.049

Splicing

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

Other links and lift over

dbSNP: rs11856995; hg19: chr15-96325643;