chr6-31131984-G-A

Position:

• chr6-31131984-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000259881.10(PSORS1C1):​c.13+2339G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0651 in 152,230 control chromosomes in the GnomAD database, including 405 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 0.065 (405 hom., cov: 33)
• Consequence: PSORS1C1 ENST00000259881.10 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.739

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

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.172 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PSORS1C1	NM_014068.3	c.13+2339G>A		intron_variant		ENST00000259881.10	NP_054787.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PSORS1C1	ENST00000259881.10	c.13+2339G>A		intron_variant		1	NM_014068.3	ENSP00000259881	P2

Frequencies

GnomAD3 genomes AF: 0.0653 AC: 9927 AN: 152110 Hom.: 409 Cov.: 33

Gnomad AFR AF: 0.0238

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.0826

Gnomad ASJ AF: 0.0280

Gnomad EAS AF: 0.130

Gnomad SAS AF: 0.183

Gnomad FIN AF: 0.0891

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.0717

Gnomad OTH AF: 0.0628

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

GnomAD4 genome AF: 0.0651 AC: 9913 AN: 152230 Hom.: 405 Cov.: 33 AF XY: 0.0690 AC XY: 5133 AN XY: 74428

Gnomad4 AFR AF: 0.0237

Gnomad4 AMR AF: 0.0822

Gnomad4 ASJ AF: 0.0280

Gnomad4 EAS AF: 0.130

Gnomad4 SAS AF: 0.182

Gnomad4 FIN AF: 0.0891

Gnomad4 NFE AF: 0.0717

Gnomad4 OTH AF: 0.0626

Alfa AF: 0.0645 Hom.: 48

Bravo AF: 0.0601

Asia WGS AF: 0.157 AC: 547 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.53

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

Publications

LitVar

Other links and lift over

dbSNP: rs12525170; hg19: chr6-31099761;