10-88761718-GCTATCTATCTATCTATCTATCTAT-GCTATCTATCTATCTATCTATCTATCTAT

Variant names:

• chr10-88761718-G-GCTAT
• rs71022539
• NM_001102469.2:c.108+246_108+249dupCTAT

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_001102469.2(LIPN):​c.108+246_108+249dupCTAT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.13 (1450 hom., cov: 0)
• Consequence: LIPN NM_001102469.2 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.694
• Publications: 0 publications found

Genes affected

LIPN (HGNC:23452): (lipase family member N) The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

LIPN Gene-Disease associations (from GenCC):

• autosomal recessive congenital ichthyosis 8

  Inheritance: Unknown, AR Classification: STRONG, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), G2P
• lamellar ichthyosis

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP6: Variant 10-88761718-G-GCTAT is Benign according to our data. Variant chr10-88761718-G-GCTAT is described in ClinVar as Benign. ClinVar VariationId is 1228278.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.164 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001102469.2. 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
	LIPN	NM_001102469.2	MANE Select	c.108+246_108+249dupCTAT		intron	N/A	NP_001095939.1	Q5VXI9

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LIPN	ENST00000404459.2	TSL:1 MANE Select	c.108+205_108+206insCTAT		intron	N/A	ENSP00000383923.1	Q5VXI9
	LIPN	ENST00000674982.1		n.241+205_241+206insCTAT		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.129 AC: 18748 AN: 145638 Hom.: 1448 Cov.: 0

Gnomad AFR AF: 0.0777

Gnomad AMI AF: 0.113

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.157

Gnomad EAS AF: 0.0191

Gnomad SAS AF: 0.0795

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.0742

Gnomad NFE AF: 0.166

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.129 AC: 18750 AN: 145758 Hom.: 1450 Cov.: 0 AF XY: 0.127 AC XY: 8987 AN XY: 70888

African (AFR) AF: 0.0775 AC: 3054 AN: 39382

American (AMR) AF: 0.115 AC: 1647 AN: 14332

Ashkenazi Jewish (ASJ) AF: 0.157 AC: 529 AN: 3368

East Asian (EAS) AF: 0.0194 AC: 96 AN: 4958

South Asian (SAS) AF: 0.0790 AC: 361 AN: 4568

European-Finnish (FIN) AF: 0.173 AC: 1708 AN: 9862

Middle Eastern (MID) AF: 0.0729 AC: 21 AN: 288

European-Non Finnish (NFE) AF: 0.166 AC: 11003 AN: 66142

Other (OTH) AF: 0.117 AC: 234 AN: 1998

Alfa AF: 0.0909 Hom.: 63

ClinVar

ClinVar submissions

Significance: Benign

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
-	-	1	not provided (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.69
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs71022539; hg19: chr10-90521475; COSMIC: COSV68383610;