rs6011913

chr20-62727850-A-G

Variant summary

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

The NM_002531.3(NTSR1):c.714+17929A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.763 in 152,206 control chromosomes in the GnomAD database, including 46,042 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 0.76 (46042 hom., cov: 35)
• Consequence: NTSR1 NM_002531.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.10

Genes affected

NTSR1 (HGNC:8039): (neurotensin receptor 1) Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.94 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NTSR1	NM_002531.3	c.714+17929A>G		intron_variant		ENST00000370501.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NTSR1	ENST00000370501.4	c.714+17929A>G		intron_variant		1	NM_002531.3	P1

Frequencies

GnomAD3 genomes AF: 0.763 AC: 116029 AN: 152088 Hom.: 46018 Cov.: 35

Gnomad AFR AF: 0.525

Gnomad AMI AF: 0.907

Gnomad AMR AF: 0.835

Gnomad ASJ AF: 0.873

Gnomad EAS AF: 0.962

Gnomad SAS AF: 0.892

Gnomad FIN AF: 0.868

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.842

Gnomad OTH AF: 0.779

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

GnomAD4 genome AF: 0.763 AC: 116100 AN: 152206 Hom.: 46042 Cov.: 35 AF XY: 0.768 AC XY: 57166 AN XY: 74424

Gnomad4 AFR AF: 0.525

Gnomad4 AMR AF: 0.836

Gnomad4 ASJ AF: 0.873

Gnomad4 EAS AF: 0.962

Gnomad4 SAS AF: 0.892

Gnomad4 FIN AF: 0.868

Gnomad4 NFE AF: 0.842

Gnomad4 OTH AF: 0.781

Alfa AF: 0.825 Hom.: 33440

Bravo AF: 0.752

Asia WGS AF: 0.904 AC: 3144 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	0.76
Dann	Benign	0.27

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: rs6011913; hg19: chr20-61359202;