3-115871684-G-C

Variant names:

• chr3-115871684-G-C
• rs10511350
• NM_002338.5:c.515-19067C>G

Variant summary

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

The NM_002338.5(LSAMP):​c.515-19067C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.193 in 151,162 control chromosomes in the GnomAD database, including 3,684 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 (3684 hom., cov: 31)
• Consequence: LSAMP NM_002338.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.689

Genes affected

LSAMP (HGNC:6705): (limbic system associated membrane protein) This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

LOC124906269 (HGNC:):

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 (AFR) allele frequency at 95% confidence interval = 0.334 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LSAMP	NM_002338.5	c.515-19067C>G		intron_variant	Intron 3 of 6	ENST00000490035.7	NP_002329.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LSAMP	ENST00000490035.7	c.515-19067C>G		intron_variant	Intron 3 of 6	1	NM_002338.5	ENSP00000419000.1
LSAMP	ENST00000333617.8	c.467-19067C>G		intron_variant	Intron 3 of 8	2		ENSP00000328455.4
LSAMP	ENST00000498645.1	n.224-19067C>G		intron_variant	Intron 2 of 4	3

Frequencies

GnomAD3 genomes AF: 0.193 AC: 29088 AN: 151046 Hom.: 3666 Cov.: 31

Gnomad AFR AF: 0.338

Gnomad AMI AF: 0.281

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.0990

Gnomad EAS AF: 0.166

Gnomad SAS AF: 0.172

Gnomad FIN AF: 0.112

Gnomad MID AF: 0.175

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.179

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

GnomAD4 genome AF: 0.193 AC: 29166 AN: 151162 Hom.: 3684 Cov.: 31 AF XY: 0.195 AC XY: 14401 AN XY: 73842

Gnomad4 AFR AF: 0.339

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.0990

Gnomad4 EAS AF: 0.165

Gnomad4 SAS AF: 0.173

Gnomad4 FIN AF: 0.112

Gnomad4 NFE AF: 0.106

Gnomad4 OTH AF: 0.183

Alfa AF: 0.0661 Hom.: 78

Bravo AF: 0.211

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.76
DANN	Benign	0.43

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: rs10511350; hg19: chr3-115590531;