ENST00000368037.10:c.*520A>C

Variant names:

• chr1-160828336-A-C
• rs512645
• ENST00000368037.10:c.*520A>C

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000368037.10(LY9):​c.*520A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: LY9 ENST00000368037.10 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.825
• Publications: 6 publications found

Genes affected

LY9 (HGNC:6730): (lymphocyte antigen 9) LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000368037.10. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LY9	NM_002348.4	MANE Select	c.*520A>C		downstream_gene	N/A	NP_002339.2	Q9HBG7-1
	LY9	NM_001261456.2		c.*520A>C		downstream_gene	N/A	NP_001248385.1	Q9HBG7-2
	LY9	NM_001261457.2		c.*520A>C		downstream_gene	N/A	NP_001248386.1	Q5VYH9

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LY9	ENST00000368037.10	TSL:1	c.*520A>C		3_prime_UTR	Exon 10 of 10	ENSP00000357016.5	Q9HBG7-2
	LY9	ENST00000263285.11	TSL:1 MANE Select	c.*520A>C		downstream_gene	N/A	ENSP00000263285.5	Q9HBG7-1
	LY9	ENST00000392203.8	TSL:1	c.*520A>C		downstream_gene	N/A	ENSP00000376039.4	Q5VYH9

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.0
DANN	Benign	0.60
PhyloP100		0.82

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs512645;

hg19: chr1-160798126;