11-35259553-A-T

Variant summary

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

The NM_004171.4(SLC1A2):​c.*1341T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.325 in 152,220 control chromosomes in the GnomAD database, including 9,285 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 0.33 ( 9282 hom., cov: 33)
Exomes 𝑓: 0.36 ( 3 hom. )

Consequence

SLC1A2
NM_004171.4 3_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.575
Variant links:
Genes affected
SLC1A2 (HGNC:10940): (solute carrier family 1 member 2) This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.518 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
SLC1A2NM_004171.4 linkuse as main transcriptc.*1341T>A 3_prime_UTR_variant 11/11 ENST00000278379.9

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
SLC1A2ENST00000278379.9 linkuse as main transcriptc.*1341T>A 3_prime_UTR_variant 11/111 NM_004171.4 P4P43004-1

Frequencies

GnomAD3 genomes
AF:
0.326
AC:
49515
AN:
152046
Hom.:
9287
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.134
Gnomad AMI
AF:
0.518
Gnomad AMR
AF:
0.347
Gnomad ASJ
AF:
0.464
Gnomad EAS
AF:
0.474
Gnomad SAS
AF:
0.533
Gnomad FIN
AF:
0.342
Gnomad MID
AF:
0.421
Gnomad NFE
AF:
0.398
Gnomad OTH
AF:
0.361
GnomAD4 exome
AF:
0.357
AC:
20
AN:
56
Hom.:
3
Cov.:
0
AF XY:
0.367
AC XY:
11
AN XY:
30
show subpopulations
Gnomad4 FIN exome
AF:
0.352
Gnomad4 OTH exome
AF:
0.500
GnomAD4 genome
AF:
0.325
AC:
49508
AN:
152164
Hom.:
9282
Cov.:
33
AF XY:
0.332
AC XY:
24696
AN XY:
74392
show subpopulations
Gnomad4 AFR
AF:
0.134
Gnomad4 AMR
AF:
0.347
Gnomad4 ASJ
AF:
0.464
Gnomad4 EAS
AF:
0.472
Gnomad4 SAS
AF:
0.535
Gnomad4 FIN
AF:
0.342
Gnomad4 NFE
AF:
0.398
Gnomad4 OTH
AF:
0.359
Alfa
AF:
0.358
Hom.:
1284
Bravo
AF:
0.314
Asia WGS
AF:
0.438
AC:
1521
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.82
CADD
Benign
0.90
DANN
Benign
0.46

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: rs10742339; hg19: chr11-35281100; API