rs8101575

Positions:

• chr19-9217986-C-T

Variant summary

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

The NM_001005191.3(OR7D4):​c.-14+1214G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0923 in 152,186 control chromosomes in the GnomAD database, including 1,260 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 0.092 (1260 hom., cov: 32)
• Consequence: OR7D4 NM_001005191.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.692

Genes affected

OR7D4 (HGNC:8380): (olfactory receptor family 7 subfamily D member 4) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

OR7E24 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.223 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
OR7D4	NM_001005191.3	c.-14+1214G>A		intron_variant		ENST00000641669.1	NP_001005191.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
OR7D4	ENST00000641669.1	c.-14+1214G>A		intron_variant			NM_001005191.3	ENSP00000493383	P1
OR7D4	ENST00000641244.1	c.-17+1214G>A		intron_variant				ENSP00000493404	P1

Frequencies

GnomAD3 genomes AF: 0.0922 AC: 14016 AN: 152068 Hom.: 1258 Cov.: 32

Gnomad AFR AF: 0.227

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0467

Gnomad ASJ AF: 0.0375

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0626

Gnomad FIN AF: 0.0305

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0433

Gnomad OTH AF: 0.0848

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

GnomAD4 genome AF: 0.0923 AC: 14045 AN: 152186 Hom.: 1260 Cov.: 32 AF XY: 0.0911 AC XY: 6777 AN XY: 74396

Gnomad4 AFR AF: 0.227

Gnomad4 AMR AF: 0.0466

Gnomad4 ASJ AF: 0.0375

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0630

Gnomad4 FIN AF: 0.0305

Gnomad4 NFE AF: 0.0433

Gnomad4 OTH AF: 0.0839

Alfa AF: 0.0553 Hom.: 526

Bravo AF: 0.101

Asia WGS AF: 0.0370 AC: 130 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.8
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8101575; hg19: chr19-9328662;