3-156908302-C-T

Position:

• chr3-156908302-C-T

Variant summary

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

The NM_001004316.3(LEKR1):​c.264-12273C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.427 in 151,894 control chromosomes in the GnomAD database, including 16,063 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 (16063 hom., cov: 31)
• Consequence: LEKR1 NM_001004316.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.932

Genes affected

LEKR1 (HGNC:33765): (leucine, glutamate and lysine rich 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.707 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LEKR1	NM_001004316.3	c.264-12273C>T		intron_variant		ENST00000356539.9	NP_001004316.2
LEKR1	NM_001193283.2	c.264-12273C>T		intron_variant			NP_001180212.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LEKR1	ENST00000356539.9	c.264-12273C>T		intron_variant		5	NM_001004316.3	ENSP00000348936	P1

Frequencies

GnomAD3 genomes AF: 0.427 AC: 64808 AN: 151776 Hom.: 16063 Cov.: 31

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.532

Gnomad AMR AF: 0.581

Gnomad ASJ AF: 0.546

Gnomad EAS AF: 0.727

Gnomad SAS AF: 0.488

Gnomad FIN AF: 0.465

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.509

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.427 AC: 64800 AN: 151894 Hom.: 16063 Cov.: 31 AF XY: 0.432 AC XY: 32036 AN XY: 74236

Gnomad4 AFR AF: 0.165

Gnomad4 AMR AF: 0.582

Gnomad4 ASJ AF: 0.546

Gnomad4 EAS AF: 0.727

Gnomad4 SAS AF: 0.487

Gnomad4 FIN AF: 0.465

Gnomad4 NFE AF: 0.509

Gnomad4 OTH AF: 0.474

Alfa AF: 0.511 Hom.: 32946

Bravo AF: 0.427

Asia WGS AF: 0.567 AC: 1970 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.54
DANN	Benign	0.57

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: rs12638253; hg19: chr3-156626091;