3-185511264-A-G

Position:

• chr3-185511264-A-G

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The ENST00000296252.9(LIPH):​c.1268+260T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.419 in 151,086 control chromosomes in the GnomAD database, including 13,442 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.42 (13442 hom., cov: 29)
• Consequence: LIPH ENST00000296252.9 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -1.88

Genes affected

LIPH (HGNC:18483): (lipase H) This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BP6: Variant 3-185511264-A-G is Benign according to our data. Variant chr3-185511264-A-G is described in ClinVar as [Benign]. Clinvar id is 1288941.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.441 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LIPH	NM_139248.3	c.1268+260T>C		intron_variant		ENST00000296252.9	NP_640341.1
LIPH	XM_006713529.5	c.1178+260T>C		intron_variant			XP_006713592.1
LIPH	XM_011512530.4	c.1139+260T>C		intron_variant			XP_011510832.1
LIPH	XM_017005852.3	c.1166+260T>C		intron_variant			XP_016861341.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LIPH	ENST00000296252.9	c.1268+260T>C		intron_variant		1	NM_139248.3	ENSP00000296252	P1
LIPH	ENST00000424591.6	c.1166+260T>C		intron_variant		1		ENSP00000396384
LIPH	ENST00000435679.1	c.200+260T>C		intron_variant		5		ENSP00000390228

Frequencies

GnomAD3 genomes AF: 0.419 AC: 63279 AN: 150966 Hom.: 13429 Cov.: 29

Gnomad AFR AF: 0.406

Gnomad AMI AF: 0.564

Gnomad AMR AF: 0.412

Gnomad ASJ AF: 0.453

Gnomad EAS AF: 0.298

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.474

Gnomad NFE AF: 0.445

Gnomad OTH AF: 0.430

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

GnomAD4 genome AF: 0.419 AC: 63317 AN: 151086 Hom.: 13442 Cov.: 29 AF XY: 0.415 AC XY: 30668 AN XY: 73822

Gnomad4 AFR AF: 0.406

Gnomad4 AMR AF: 0.411

Gnomad4 ASJ AF: 0.453

Gnomad4 EAS AF: 0.299

Gnomad4 SAS AF: 0.262

Gnomad4 FIN AF: 0.416

Gnomad4 NFE AF: 0.445

Gnomad4 OTH AF: 0.432

Alfa AF: 0.271 Hom.: 648

Bravo AF: 0.420

Asia WGS AF: 0.315 AC: 1094 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 19, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.92
DANN	Benign	0.62

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: rs13342930; hg19: chr3-185229052;