rs1127773
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000379152.7(SLC7A6):n.*1215G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.503 in 152,432 control chromosomes in the GnomAD database, including 20,187 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
Consequence
ENST00000379152.7 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
- epilepsyInheritance: AR Classification: LIMITED Submitted by: Ambry Genetics
- epilepsy, progressive myoclonic, 12Inheritance: AR Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC7A6 | NM_003983.6 | c.*1516G>A | 3_prime_UTR_variant | Exon 11 of 11 | ENST00000219343.11 | NP_003974.3 | ||
SLC7A6OS | NM_032178.3 | c.*2431C>T | 3_prime_UTR_variant | Exon 5 of 5 | ENST00000263997.11 | NP_115554.2 | ||
SLC7A6 | NM_001076785.3 | c.*1516G>A | 3_prime_UTR_variant | Exon 12 of 12 | NP_001070253.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC7A6 | ENST00000219343.11 | c.*1516G>A | 3_prime_UTR_variant | Exon 11 of 11 | 1 | NM_003983.6 | ENSP00000219343.6 | |||
SLC7A6OS | ENST00000263997.11 | c.*2431C>T | 3_prime_UTR_variant | Exon 5 of 5 | 1 | NM_032178.3 | ENSP00000263997.5 |
Frequencies
GnomAD3 genomes AF: 0.503 AC: 76414AN: 151912Hom.: 20131 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.520 AC: 209AN: 402Hom.: 46 Cov.: 0 AF XY: 0.523 AC XY: 137AN XY: 262 show subpopulations
GnomAD4 genome AF: 0.503 AC: 76458AN: 152030Hom.: 20141 Cov.: 32 AF XY: 0.501 AC XY: 37192AN XY: 74296 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at