rs370578958
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001371727.1(GABRB2):c.441C>T(p.Thr147=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. T147T) has been classified as Likely benign.
Frequency
Consequence
NM_001371727.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRB2 | NM_001371727.1 | c.441C>T | p.Thr147= | synonymous_variant | 4/10 | ENST00000393959.6 | |
GABRB2 | NM_021911.3 | c.441C>T | p.Thr147= | synonymous_variant | 5/11 | ||
GABRB2 | NM_000813.3 | c.441C>T | p.Thr147= | synonymous_variant | 5/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRB2 | ENST00000393959.6 | c.441C>T | p.Thr147= | synonymous_variant | 4/10 | 1 | NM_001371727.1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251100Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135690
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461682Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 727158
GnomAD4 genome ? AF: 0.0000789 AC: 12AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 05, 2017 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Intellectual disability Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 02, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at