rs4597955

Variant summary

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

The XR_001742935.2(LOC107986462):​n.344-1210G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.702 in 152,184 control chromosomes in the GnomAD database, including 39,339 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 0.70 ( 39339 hom., cov: 33)

Consequence

LOC107986462
XR_001742935.2 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.483
Variant links:
Genes affected
HTR4 (HGNC:5299): (5-hydroxytryptamine receptor 4) This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]

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=-0.95).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.909 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LOC107986462XR_001742935.2 linkuse as main transcriptn.344-1210G>A intron_variant, non_coding_transcript_variant
HTR4NM_001040169.2 linkuse as main transcriptc.1077-16438C>T intron_variant NP_001035259.1
HTR4NM_199453.3 linkuse as main transcriptc.1077-1785C>T intron_variant NP_955525.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
HTR4ENST00000521530.6 linkuse as main transcriptc.1077-16438C>T intron_variant 1 ENSP00000428320 P1Q13639-2
HTR4ENST00000521735.5 linkuse as main transcriptc.1077-1785C>T intron_variant 1 ENSP00000430979 Q13639-5
HTR4ENST00000522588.5 linkuse as main transcriptc.1077-1785C>T intron_variant, NMD_transcript_variant 1 ENSP00000430874 Q13639-5

Frequencies

GnomAD3 genomes
AF:
0.702
AC:
106720
AN:
152066
Hom.:
39271
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.915
Gnomad AMI
AF:
0.630
Gnomad AMR
AF:
0.716
Gnomad ASJ
AF:
0.572
Gnomad EAS
AF:
0.931
Gnomad SAS
AF:
0.651
Gnomad FIN
AF:
0.586
Gnomad MID
AF:
0.528
Gnomad NFE
AF:
0.583
Gnomad OTH
AF:
0.652
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.702
AC:
106847
AN:
152184
Hom.:
39339
Cov.:
33
AF XY:
0.703
AC XY:
52287
AN XY:
74394
show subpopulations
Gnomad4 AFR
AF:
0.915
Gnomad4 AMR
AF:
0.716
Gnomad4 ASJ
AF:
0.572
Gnomad4 EAS
AF:
0.931
Gnomad4 SAS
AF:
0.651
Gnomad4 FIN
AF:
0.586
Gnomad4 NFE
AF:
0.583
Gnomad4 OTH
AF:
0.656
Alfa
AF:
0.599
Hom.:
36607
Bravo
AF:
0.722
Asia WGS
AF:
0.810
AC:
2813
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.95
CADD
Benign
4.0
DANN
Benign
0.46

Splicing

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: rs4597955; hg19: chr5-147847273; API