rs6781226

Positions:

• chr3-87982686-G-A
• chr3-87982686-G-T

Variant summary

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

The NM_001322209.2(HTR1F):​c.-42-8022G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.598 in 151,948 control chromosomes in the GnomAD database, including 27,376 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 0.60 (27376 hom., cov: 31)
• Consequence: HTR1F NM_001322209.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.437

Genes affected

HTR1F (HGNC:5292): (5-hydroxytryptamine receptor 1F) Enables G protein-coupled serotonin receptor activity and serotonin binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.714 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HTR1F	NM_001322209.2	c.-42-8022G>A		intron_variant		ENST00000319595.7	NP_001309138.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
HTR1F	ENST00000319595.7	c.-42-8022G>A		intron_variant			NM_001322209.2	ENSP00000322924	P1

Frequencies

GnomAD3 genomes AF: 0.597 AC: 90710 AN: 151830 Hom.: 27351 Cov.: 31

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.634

Gnomad AMR AF: 0.647

Gnomad ASJ AF: 0.663

Gnomad EAS AF: 0.699

Gnomad SAS AF: 0.735

Gnomad FIN AF: 0.555

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.610

Gnomad OTH AF: 0.610

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

GnomAD4 genome AF: 0.598 AC: 90793 AN: 151948 Hom.: 27376 Cov.: 31 AF XY: 0.598 AC XY: 44409 AN XY: 74252

Gnomad4 AFR AF: 0.533

Gnomad4 AMR AF: 0.647

Gnomad4 ASJ AF: 0.663

Gnomad4 EAS AF: 0.699

Gnomad4 SAS AF: 0.734

Gnomad4 FIN AF: 0.555

Gnomad4 NFE AF: 0.610

Gnomad4 OTH AF: 0.612

Alfa AF: 0.614 Hom.: 12881

Bravo AF: 0.603

Asia WGS AF: 0.740 AC: 2572 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.43
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6781226; hg19: chr3-88031836; COSMIC: COSV59179727;