rs10544581

Variant names:

• chr11-822820-C-CTCTCTCT
• rs10544581
• NM_020376.4:c.696+215_696+216insCTCTCTT

Your query was ambiguous. Multiple possible variants found:

• chr11-822820-C-CTCTCTCT
• chr11-822820-C-CTCTCT
• chr11-822820-C-CTCT
• chr11-822820-C-CTCTT
• chr11-822820-C-CTCTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_020376.4(PNPLA2):​c.696+215_696+216insCTCTCTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: PNPLA2 NM_020376.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.77
• Publications: 2 publications found

Genes affected

PNPLA2 (HGNC:30802): (patatin like phospholipase domain containing 2) This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

PNPLA2 Gene-Disease associations (from GenCC):

• neutral lipid storage myopathy

  Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Ambry Genetics, ClinGen, G2P, Labcorp Genetics (formerly Invitae), Orphanet

ENSG00000255108 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PNPLA2	NM_020376.4	c.696+215_696+216insCTCTCTT		intron_variant	Intron 5 of 9	ENST00000336615.9	NP_065109.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PNPLA2	ENST00000336615.9	c.696+214_696+215insTCTCTCT		intron_variant	Intron 5 of 9	1	NM_020376.4	ENSP00000337701.4
PNPLA2	ENST00000525250.5	n.1302+214_1302+215insTCTCTCT		intron_variant	Intron 3 of 5	2
PNPLA2	ENST00000531923.1	n.591+214_591+215insTCTCTCT		intron_variant	Intron 1 of 1	2
ENSG00000255108	ENST00000532946.2	n.*214_*215insAGAGAGA		downstream_gene_variant		5

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.8

Splicing

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

Other links and lift over

dbSNP: rs10544581; hg19: chr11-822820;