NM_201433.2:c.183+70435G>A
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_201433.2(GAS7):c.183+70435G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.312 in 151,900 control chromosomes in the GnomAD database, including 8,266 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 0.31 ( 8266 hom., cov: 32)
Consequence
GAS7
NM_201433.2 intron
NM_201433.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.995
Publications
29 publications found
Genes affected
GAS7 (HGNC:4169): (growth arrest specific 7) Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]
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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=-0.81).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.493 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.313 AC: 47435AN: 151782Hom.: 8266 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
47435
AN:
151782
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: 0.312 AC: 47445AN: 151900Hom.: 8266 Cov.: 32 AF XY: 0.315 AC XY: 23411AN XY: 74242 show subpopulations
GnomAD4 genome
AF:
AC:
47445
AN:
151900
Hom.:
Cov.:
32
AF XY:
AC XY:
23411
AN XY:
74242
show subpopulations
African (AFR)
AF:
AC:
7380
AN:
41440
American (AMR)
AF:
AC:
4923
AN:
15262
Ashkenazi Jewish (ASJ)
AF:
AC:
1108
AN:
3464
East Asian (EAS)
AF:
AC:
2614
AN:
5128
South Asian (SAS)
AF:
AC:
1293
AN:
4818
European-Finnish (FIN)
AF:
AC:
4020
AN:
10526
Middle Eastern (MID)
AF:
AC:
110
AN:
292
European-Non Finnish (NFE)
AF:
AC:
24936
AN:
67956
Other (OTH)
AF:
AC:
742
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.498
Heterozygous variant carriers
0
1546
3092
4637
6183
7729
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
480
960
1440
1920
2400
<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:
1155
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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