rs759515813
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP6_Moderate
The NM_003042.4(SLC6A1):c.1213A>C(p.Ile405Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I405V) has been classified as Likely benign.
Frequency
Genomes: not found (cov: 32)
Consequence
SLC6A1
NM_003042.4 missense
NM_003042.4 missense
Scores
3
5
6
Clinical Significance
Conservation
PhyloP100: 6.17
Genes affected
SLC6A1 (HGNC:11042): (solute carrier family 6 member 1) The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
PP2
?
Missense variant where missense usually causes diseases, SLC6A1
BP6
?
Variant 3-11029242-A-C is Benign according to our data. Variant chr3-11029242-A-C is described in ClinVar as [Benign]. Clinvar id is 1167091.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC6A1 | NM_003042.4 | c.1213A>C | p.Ile405Leu | missense_variant | 12/16 | ENST00000287766.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC6A1 | ENST00000287766.10 | c.1213A>C | p.Ile405Leu | missense_variant | 12/16 | 1 | NM_003042.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome Cov.: 32
GnomAD4 exome
Cov.:
32
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Myoclonic-atonic epilepsy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 05, 2020 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Uncertain
D
BayesDel_noAF
Uncertain
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
T;T;T;T;T;.;T;.;T;T;T;T;.;T;T;T;.;T;T;T;.;T;T;T;.
Eigen
Benign
Eigen_PC
Uncertain
FATHMM_MKL
Pathogenic
D
M_CAP
Benign
D
MetaRNN
Uncertain
D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM
Benign
T
MutationAssessor
Benign
L;L;L;L;L;.;L;.;L;L;L;L;.;L;L;L;.;L;L;L;.;L;L;L;.
MutationTaster
Benign
D;D
PrimateAI
Pathogenic
D
Polyphen
B;B;B;B;B;.;B;.;B;B;B;B;.;B;B;B;.;B;B;B;.;B;B;B;.
Vest4
0.58
MutPred
Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);.;Loss of catalytic residue at I405 (P = 0.1211);.;Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);.;Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);.;Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);.;Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);Loss of catalytic residue at I405 (P = 0.1211);.;
MVP
0.74
MPC
1.2
ClinPred
D
GERP RS
Varity_R
gMVP
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
No publications associated with this variant yet.