10-88761718-GCTATCTATCTATCTATCTATCTAT-GCTATCTATCTATCTATCTAT

Variant names:

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

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+249delCTAT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.081 (532 hom., cov: 0)
• Consequence: LIPN NM_001102469.2 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.429
• 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-GCTAT-G is Benign according to our data. Variant chr10-88761718-GCTAT-G is described in ClinVar as Benign. ClinVar VariationId is 1246521.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.102 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+249delCTAT		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+206_108+209delCTAT		intron	N/A	ENSP00000383923.1	Q5VXI9
	LIPN	ENST00000674982.1		n.241+206_241+209delCTAT		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0815 AC: 11867 AN: 145688 Hom.: 530 Cov.: 0

Gnomad AFR AF: 0.0552

Gnomad AMI AF: 0.0708

Gnomad AMR AF: 0.0869

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.0870

Gnomad SAS AF: 0.108

Gnomad FIN AF: 0.0673

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.0938

Gnomad OTH AF: 0.0933

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

GnomAD4 genome AF: 0.0815 AC: 11881 AN: 145806 Hom.: 532 Cov.: 0 AF XY: 0.0813 AC XY: 5765 AN XY: 70906

African (AFR) AF: 0.0553 AC: 2177 AN: 39388

American (AMR) AF: 0.0870 AC: 1247 AN: 14340

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 370 AN: 3374

East Asian (EAS) AF: 0.0869 AC: 431 AN: 4958

South Asian (SAS) AF: 0.110 AC: 502 AN: 4570

European-Finnish (FIN) AF: 0.0673 AC: 664 AN: 9860

Middle Eastern (MID) AF: 0.118 AC: 34 AN: 288

European-Non Finnish (NFE) AF: 0.0939 AC: 6211 AN: 66174

Other (OTH) AF: 0.0924 AC: 184 AN: 1992

Alfa AF: 0.0425 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		0.43
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: rs71022539; hg19: chr10-90521475;