NM_014068.3:c.-228-1591A>G

Variant names:

• chr6-31124085-A-G
• rs3094205
• NM_014068.3:c.-228-1591A>G

Variant summary

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

The NM_014068.3(PSORS1C1):​c.-228-1591A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.409 in 152,054 control chromosomes in the GnomAD database, including 13,577 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 0.41 (13577 hom., cov: 32)
• Consequence: PSORS1C1 NM_014068.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.925
• Publications: 24 publications found

Genes affected

PSORS1C1 (HGNC:17202): (psoriasis susceptibility 1 candidate 1) This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.568 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_014068.3. 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
	PSORS1C1	NM_014068.3	MANE Select	c.-228-1591A>G		intron	N/A	NP_054787.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PSORS1C1	ENST00000259881.10	TSL:1 MANE Select	c.-228-1591A>G		intron	N/A	ENSP00000259881.9
	PSORS1C1	ENST00000479581.5	TSL:1	n.61+9194A>G		intron	N/A
	PSORS1C1	ENST00000552747.1	TSL:1	n.53+9194A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.409 AC: 62149 AN: 151936 Hom.: 13562 Cov.: 32

Gnomad AFR AF: 0.575

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.410

Gnomad ASJ AF: 0.373

Gnomad EAS AF: 0.522

Gnomad SAS AF: 0.288

Gnomad FIN AF: 0.306

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.327

Gnomad OTH AF: 0.412

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

GnomAD4 genome AF: 0.409 AC: 62214 AN: 152054 Hom.: 13577 Cov.: 32 AF XY: 0.407 AC XY: 30217 AN XY: 74320

African (AFR) AF: 0.575 AC: 23817 AN: 41450

American (AMR) AF: 0.411 AC: 6262 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.373 AC: 1292 AN: 3460

East Asian (EAS) AF: 0.521 AC: 2696 AN: 5172

South Asian (SAS) AF: 0.288 AC: 1388 AN: 4814

European-Finnish (FIN) AF: 0.306 AC: 3246 AN: 10594

Middle Eastern (MID) AF: 0.429 AC: 126 AN: 294

European-Non Finnish (NFE) AF: 0.327 AC: 22239 AN: 68000

Other (OTH) AF: 0.411 AC: 867 AN: 2108

Alfa AF: 0.351 Hom.: 25914

Bravo AF: 0.429

Asia WGS AF: 0.360 AC: 1251 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.38
DANN	Benign	0.27
PhyloP100		-0.93
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs3094205; hg19: chr6-31091862;