chr6-29430002-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001394828.1(OR11A1):​c.-140+299G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.219 in 152,066 control chromosomes in the GnomAD database, including 4,093 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 0.22 ( 4093 hom., cov: 32)

Consequence

OR11A1
NM_001394828.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.36
Variant links:
Genes affected
OR11A1 (HGNC:8176): (olfactory receptor family 11 subfamily A member 1) 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]
OR5V1 (HGNC:13972): (olfactory receptor family 5 subfamily V member 1) 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]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.279 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
OR11A1NM_001394828.1 linkuse as main transcriptc.-140+299G>A intron_variant ENST00000377149.5 NP_001381757.1
OR11A1NM_013937.4 linkuse as main transcriptc.-92+1862G>A intron_variant NP_039225.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
OR11A1ENST00000377149.5 linkuse as main transcriptc.-140+299G>A intron_variant NM_001394828.1 ENSP00000366354 P1
OR5V1ENST00000377154.1 linkuse as main transcriptc.-197+1862G>A intron_variant ENSP00000366359 P1
OR11A1ENST00000641152.2 linkuse as main transcriptc.-92+1862G>A intron_variant ENSP00000493093 P1

Frequencies

GnomAD3 genomes
AF:
0.219
AC:
33253
AN:
151948
Hom.:
4094
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.107
Gnomad AMI
AF:
0.357
Gnomad AMR
AF:
0.192
Gnomad ASJ
AF:
0.337
Gnomad EAS
AF:
0.226
Gnomad SAS
AF:
0.103
Gnomad FIN
AF:
0.285
Gnomad MID
AF:
0.212
Gnomad NFE
AF:
0.283
Gnomad OTH
AF:
0.224
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.219
AC:
33256
AN:
152066
Hom.:
4093
Cov.:
32
AF XY:
0.217
AC XY:
16154
AN XY:
74320
show subpopulations
Gnomad4 AFR
AF:
0.107
Gnomad4 AMR
AF:
0.191
Gnomad4 ASJ
AF:
0.337
Gnomad4 EAS
AF:
0.227
Gnomad4 SAS
AF:
0.103
Gnomad4 FIN
AF:
0.285
Gnomad4 NFE
AF:
0.283
Gnomad4 OTH
AF:
0.221
Alfa
AF:
0.260
Hom.:
5363
Bravo
AF:
0.207
Asia WGS
AF:
0.122
AC:
426
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.43
DANN
Benign
0.52

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs9295805; hg19: chr6-29397779; API