rs110419

chr11-8231306-A-Gchr11-8231306-A-T

Variant summary

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

The NM_002315.3(LMO1):c.26-802T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.428 in 152,202 control chromosomes in the GnomAD database, including 15,530 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 0.43 (15530 hom., cov: 34)
• Consequence: LMO1 NM_002315.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.676

Genes affected

LMO1 (HGNC:6641): (LIM domain only 1) This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]

LOC105376536 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.67 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LMO1	NM_002315.3	c.26-802T>C		intron_variant		ENST00000335790.8
LOC105376536	XR_007062582.1	n.171+222A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LMO1	ENST00000335790.8	c.26-802T>C		intron_variant		1	NM_002315.3	A1
LMO1	ENST00000428101.6	c.23-802T>C		intron_variant		1		P4
LMO1	ENST00000524379.1	n.52-802T>C		intron_variant, non_coding_transcript_variant		1
LMO1	ENST00000534484.1	c.-8-802T>C		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.429 AC: 65201 AN: 152084 Hom.: 15533 Cov.: 34

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.578

Gnomad AMR AF: 0.522

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.426

Gnomad SAS AF: 0.691

Gnomad FIN AF: 0.488

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.455

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

GnomAD4 genome AF: 0.428 AC: 65199 AN: 152202 Hom.: 15530 Cov.: 34 AF XY: 0.435 AC XY: 32391 AN XY: 74404

Gnomad4 AFR AF: 0.202

Gnomad4 AMR AF: 0.522

Gnomad4 ASJ AF: 0.451

Gnomad4 EAS AF: 0.426

Gnomad4 SAS AF: 0.689

Gnomad4 FIN AF: 0.488

Gnomad4 NFE AF: 0.513

Gnomad4 OTH AF: 0.452

Alfa AF: 0.506 Hom.: 38760

Bravo AF: 0.414

Asia WGS AF: 0.479 AC: 1666 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	4.8
Dann	Benign	0.38

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: rs110419; hg19: chr11-8252853;