Variant chr6-31115887-G-A details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The NM_001264.5(CDSN):c.*138C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.534 in 727,972 control chromosomes in the GnomAD database, including 107,448 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.58 ( 26032 hom., cov: 31)

Exomes 𝑓: 0.52 ( 81416 hom. )

Consequence

CDSN
NM_001264.5 3_prime_UTR

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.306

Variant links:

Genes affected

CDSN (HGNC:1802): (corneodesmosin) This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]

CDSN links:

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]

PSORS1C1 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.88).

BP6

Variant 6-31115887-G-A is Benign according to our data. Variant chr6-31115887-G-A is described in ClinVar as [Benign]. Clinvar id is 1227115.Status of the report is criteria_provided_single_submitter, 1 stars.

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.696 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CDSN	NM_001264.5 linkuse as main transcript	c.*138C>T		3_prime_UTR_variant	2/2	ENST00000376288.3
PSORS1C1	NM_014068.3 linkuse as main transcript	c.-229+996G>A		intron_variant		ENST00000259881.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CDSN	ENST00000376288.3 linkuse as main transcript	c.*138C>T		3_prime_UTR_variant	2/2	1	NM_001264.5	P1
PSORS1C1	ENST00000259881.10 linkuse as main transcript	c.-229+996G>A		intron_variant		1	NM_014068.3	P2	Q9UIG5-1

Frequencies

GnomAD3 genomes

AF:

0.579

AC:

87800

AN:

151560

Hom.:

26016

Cov.:

show subpopulations

Gnomad AFR

AF:

0.682

Gnomad AMI

AF:

0.387

Gnomad AMR

AF:

0.617

Gnomad ASJ

AF:

0.670

Gnomad EAS

AF:

0.716

Gnomad SAS

AF:

0.618

Gnomad FIN

AF:

0.500

Gnomad MID

AF:

0.688

Gnomad NFE

AF:

0.505

Gnomad OTH

AF:

0.599

GnomAD4 exome

AF:

0.522

AC:

300576

AN:

576294

Hom.:

81416

Cov.:

AF XY:

0.527

AC XY:

158838

AN XY:

301394

show subpopulations

Gnomad4 AFR exome

AF:

0.661

Gnomad4 AMR exome

AF:

0.563

Gnomad4 ASJ exome

AF:

0.634

Gnomad4 EAS exome

AF:

0.674

Gnomad4 SAS exome

AF:

0.618

Gnomad4 FIN exome

AF:

0.501

Gnomad4 NFE exome

AF:

0.478

Gnomad4 OTH exome

AF:

0.533

GnomAD4 genome

AF:

0.579

AC:

87858

AN:

151678

Hom.:

26032

Cov.:

AF XY:

0.583

AC XY:

43169

AN XY:

74102

show subpopulations

Gnomad4 AFR

AF:

0.682

Gnomad4 AMR

AF:

0.616

Gnomad4 ASJ

AF:

0.670

Gnomad4 EAS

AF:

0.716

Gnomad4 SAS

AF:

0.617

Gnomad4 FIN

AF:

0.500

Gnomad4 NFE

AF:

0.505

Gnomad4 OTH

AF:

0.598

Alfa

AF:

0.546

Hom.:

16857

Bravo

AF:

0.594

Asia WGS

AF:

0.640

AC:

2226

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Nov 10, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.88

CADD

Benign

1.4

DANN

Benign

0.68

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

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over