NM_175067.1:c.-240A>C
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_175067.1(TAAR6):c.-240A>C variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.07 in 152,316 control chromosomes in the GnomAD database, including 387 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 0.070 ( 387 hom., cov: 32)
Consequence
TAAR6
NM_175067.1 upstream_gene
NM_175067.1 upstream_gene
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.246
Publications
0 publications found
Genes affected
TAAR6 (HGNC:20978): (trace amine associated receptor 6) This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0754 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0700 AC: 10655AN: 152198Hom.: 386 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
10655
AN:
152198
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0700 AC: 10665AN: 152316Hom.: 387 Cov.: 32 AF XY: 0.0684 AC XY: 5091AN XY: 74472 show subpopulations
GnomAD4 genome
AF:
AC:
10665
AN:
152316
Hom.:
Cov.:
32
AF XY:
AC XY:
5091
AN XY:
74472
show subpopulations
African (AFR)
AF:
AC:
2908
AN:
41568
American (AMR)
AF:
AC:
1209
AN:
15290
Ashkenazi Jewish (ASJ)
AF:
AC:
136
AN:
3472
East Asian (EAS)
AF:
AC:
158
AN:
5188
South Asian (SAS)
AF:
AC:
87
AN:
4832
European-Finnish (FIN)
AF:
AC:
679
AN:
10610
Middle Eastern (MID)
AF:
AC:
18
AN:
294
European-Non Finnish (NFE)
AF:
AC:
5234
AN:
68040
Other (OTH)
AF:
AC:
155
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
545
1091
1636
2182
2727
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
118
236
354
472
590
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
95
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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