3-10284485-G-C

Variant names:

• chr3-10284485-G-C
• rs171407
• ENST00000437082.5:n.*224-1263G>C

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000437082.5(ENSG00000272410):​n.*224-1263G>C variant causes a intron 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: 31)
• Consequence: ENSG00000272410 ENST00000437082.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.290

Genes affected

ENSG00000272410 (HGNC:):

LINC00852 (HGNC:29904): (long intergenic non-protein coding RNA 852)

GHRLOS (HGNC:33885): (ghrelin opposite strand/antisense RNA) This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC00852	NR_026829.1	n.67G>C		non_coding_transcript_exon_variant	Exon 1 of 1
GHRLOS	NR_004431.3	n.52-1263G>C		intron_variant	Intron 1 of 4
GHRLOS	NR_024144.2	n.134+882G>C		intron_variant	Intron 2 of 5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000272410	ENST00000437082.5	n.*224-1263G>C		intron_variant	Intron 7 of 7	2		ENSP00000402783.1
LINC00852	ENST00000475197.1	n.67G>C		non_coding_transcript_exon_variant	Exon 1 of 1	6
LINC00852	ENST00000538717.1	n.67G>C		non_coding_transcript_exon_variant	Exon 1 of 1	6
ENSG00000272410	ENST00000450534.1	n.*2447-1263G>C		intron_variant	Intron 7 of 7	2		ENSP00000399689.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.42
DANN	Benign	0.69
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

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: rs171407; hg19: chr3-10326169;