rs17116117

Positions:

• chr11-113930869-A-G
• chr11-113930869-A-T

Variant summary

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

The NM_006028.5(HTR3B):​c.214-515A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0529 in 152,232 control chromosomes in the GnomAD database, including 277 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 0.053 (277 hom., cov: 32)
• Consequence: HTR3B NM_006028.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.312

Genes affected

HTR3B (HGNC:5298): (5-hydroxytryptamine receptor 3B) The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0792 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
HTR3B	NM_006028.5	c.214-515A>G		intron_variant		ENST00000260191.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
HTR3B	ENST00000260191.8	c.214-515A>G		intron_variant		1	NM_006028.5	P2
HTR3B	ENST00000537778.5	c.181-515A>G		intron_variant		1		A2

Frequencies

GnomAD3 genomes AF: 0.0529 AC: 8052 AN: 152114 Hom.: 276 Cov.: 32

Gnomad AFR AF: 0.0816

Gnomad AMI AF: 0.0219

Gnomad AMR AF: 0.0712

Gnomad ASJ AF: 0.0181

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0459

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0309

Gnomad OTH AF: 0.0464

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

GnomAD4 genome AF: 0.0529 AC: 8060 AN: 152232 Hom.: 277 Cov.: 32 AF XY: 0.0565 AC XY: 4208 AN XY: 74446

Gnomad4 AFR AF: 0.0815

Gnomad4 AMR AF: 0.0712

Gnomad4 ASJ AF: 0.0181

Gnomad4 EAS AF: 0.000964

Gnomad4 SAS AF: 0.0457

Gnomad4 FIN AF: 0.101

Gnomad4 NFE AF: 0.0309

Gnomad4 OTH AF: 0.0459

Alfa AF: 0.0213 Hom.: 10

Bravo AF: 0.0493

Asia WGS AF: 0.0270 AC: 94 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.8
DANN	Benign	0.72

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: rs17116117; hg19: chr11-113801591;