rs61753093
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_152743.4(BRAT1):c.2208G>T(p.Leu736Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00255 in 1,613,090 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_152743.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRAT1 | ENST00000340611.9 | c.2208G>T | p.Leu736Leu | synonymous_variant | Exon 14 of 14 | 1 | NM_152743.4 | ENSP00000339637.4 | ||
BRAT1 | ENST00000467558.5 | n.3994G>T | non_coding_transcript_exon_variant | Exon 10 of 10 | 5 | |||||
BRAT1 | ENST00000469750.5 | n.4780G>T | non_coding_transcript_exon_variant | Exon 11 of 11 | 2 | |||||
BRAT1 | ENST00000493232.5 | n.4914G>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00184 AC: 280AN: 152216Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.00259 AC: 644AN: 248466Hom.: 3 AF XY: 0.00287 AC XY: 387AN XY: 134886
GnomAD4 exome AF: 0.00262 AC: 3826AN: 1460756Hom.: 13 Cov.: 66 AF XY: 0.00273 AC XY: 1986AN XY: 726700
GnomAD4 genome AF: 0.00184 AC: 281AN: 152334Hom.: 1 Cov.: 34 AF XY: 0.00203 AC XY: 151AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:6
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BRAT1: BP4, BP7, BS2 -
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BRAT1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Neonatal-onset encephalopathy with rigidity and seizures Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at