chr3-188399119-C-T

Position:

• chr3-188399119-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001375462.1(LPP):​c.-9-6993C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 152,072 control chromosomes in the GnomAD database, including 6,132 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.19 (6132 hom., cov: 33)
• Consequence: LPP NM_001375462.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00500

Genes affected

LPP (HGNC:6679): (LIM domain containing preferred translocation partner in lipoma) This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.521 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LPP	NM_001375462.1	c.-9-6993C>T		intron_variant		ENST00000617246.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LPP	ENST00000617246.5	c.-9-6993C>T		intron_variant		1	NM_001375462.1	P1

Frequencies

GnomAD3 genomes AF: 0.192 AC: 29201 AN: 151954 Hom.: 6120 Cov.: 33

Gnomad AFR AF: 0.527

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0901

Gnomad ASJ AF: 0.0559

Gnomad EAS AF: 0.202

Gnomad SAS AF: 0.0844

Gnomad FIN AF: 0.0866

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0467

Gnomad OTH AF: 0.144

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

GnomAD4 genome AF: 0.192 AC: 29250 AN: 152072 Hom.: 6132 Cov.: 33 AF XY: 0.189 AC XY: 14070 AN XY: 74354

Gnomad4 AFR AF: 0.526

Gnomad4 AMR AF: 0.0901

Gnomad4 ASJ AF: 0.0559

Gnomad4 EAS AF: 0.202

Gnomad4 SAS AF: 0.0833

Gnomad4 FIN AF: 0.0866

Gnomad4 NFE AF: 0.0467

Gnomad4 OTH AF: 0.143

Alfa AF: 0.137 Hom.: 472

Bravo AF: 0.210

Asia WGS AF: 0.187 AC: 648 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.4
DANN	Benign	0.80

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: rs7634898; hg19: chr3-188116907;