3-185517333-A-G

Variant summary

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

The NM_139248.3(LIPH):c.887-171T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0955 in 152,186 control chromosomes in the GnomAD database, including 1,274 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.095 (1274 hom., cov: 32)
• Consequence: LIPH NM_139248.3 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -1.24

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=-0.92).
• BP6: Variant 3-185517333-A-G is Benign according to our data. Variant chr3-185517333-A-G is described in ClinVar as [Benign]. Clinvar id is 1234223.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.234 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LIPH	NM_139248.3	c.887-171T>C		intron_variant		ENST00000296252.9
LIPH	XM_006713529.5	c.797-171T>C		intron_variant
LIPH	XM_011512530.4	c.758-171T>C		intron_variant
LIPH	XM_017005852.3	c.785-171T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LIPH	ENST00000296252.9	c.887-171T>C		intron_variant		1	NM_139248.3	P1
LIPH	ENST00000424591.6	c.785-171T>C		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.0954 AC: 14503 AN: 152066 Hom.: 1271 Cov.: 32

Gnomad AFR AF: 0.238

Gnomad AMI AF: 0.0658

Gnomad AMR AF: 0.0663

Gnomad ASJ AF: 0.0809

Gnomad EAS AF: 0.0135

Gnomad SAS AF: 0.0174

Gnomad FIN AF: 0.0163

Gnomad MID AF: 0.0892

Gnomad NFE AF: 0.0408

Gnomad OTH AF: 0.0880

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

GnomAD4 genome AF: 0.0955 AC: 14529 AN: 152186 Hom.: 1274 Cov.: 32 AF XY: 0.0916 AC XY: 6815 AN XY: 74404

Gnomad4 AFR AF: 0.238

Gnomad4 AMR AF: 0.0663

Gnomad4 ASJ AF: 0.0809

Gnomad4 EAS AF: 0.0135

Gnomad4 SAS AF: 0.0174

Gnomad4 FIN AF: 0.0163

Gnomad4 NFE AF: 0.0408

Gnomad4 OTH AF: 0.0875

Alfa AF: 0.0704 Hom.: 97

Bravo AF: 0.104

Asia WGS AF: 0.0290 AC: 101 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 20, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	0.26
Dann	Benign	0.55

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: rs57390243; hg19: chr3-185235121;