Menu
GeneBe

rs2254298

Variant summary

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

The NM_000916.4(OXTR):c.922+6724C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.161 in 152,206 control chromosomes in the GnomAD database, including 2,317 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 0.16 ( 2317 hom., cov: 33)

Consequence

OXTR
NM_000916.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.242
Variant links:
Genes affected
OXTR (HGNC:8529): (oxytocin receptor) The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
CAV3 (HGNC:1529): (caveolin 3) This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.3 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
OXTRNM_000916.4 linkuse as main transcriptc.922+6724C>T intron_variant ENST00000316793.8

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
OXTRENST00000316793.8 linkuse as main transcriptc.922+6724C>T intron_variant 1 NM_000916.4 P1
CAV3ENST00000472766.1 linkuse as main transcriptn.156-16935G>A intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.161
AC:
24436
AN:
152088
Hom.:
2310
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.226
Gnomad AMI
AF:
0.136
Gnomad AMR
AF:
0.210
Gnomad ASJ
AF:
0.206
Gnomad EAS
AF:
0.313
Gnomad SAS
AF:
0.109
Gnomad FIN
AF:
0.0735
Gnomad MID
AF:
0.231
Gnomad NFE
AF:
0.113
Gnomad OTH
AF:
0.178
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.161
AC:
24485
AN:
152206
Hom.:
2317
Cov.:
33
AF XY:
0.161
AC XY:
11963
AN XY:
74420
show subpopulations
Gnomad4 AFR
AF:
0.226
Gnomad4 AMR
AF:
0.210
Gnomad4 ASJ
AF:
0.206
Gnomad4 EAS
AF:
0.313
Gnomad4 SAS
AF:
0.110
Gnomad4 FIN
AF:
0.0735
Gnomad4 NFE
AF:
0.113
Gnomad4 OTH
AF:
0.182
Alfa
AF:
0.140
Hom.:
559
Bravo
AF:
0.177
Asia WGS
AF:
0.245
AC:
850
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.86
Cadd
Benign
4.1
Dann
Benign
0.35

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: rs2254298; hg19: chr3-8802228; API