2-161417795-G-C
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2PM5PP3_StrongPP5_Moderate
The NM_006593.4(TBR1):c.812G>C(p.Trp271Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 12/20 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. W271R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_006593.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBR1 | ENST00000389554.8 | c.812G>C | p.Trp271Ser | missense_variant | Exon 2 of 6 | 1 | NM_006593.4 | ENSP00000374205.3 | ||
TBR1 | ENST00000411412.5 | c.17G>C | p.Trp6Ser | missense_variant | Exon 1 of 6 | 5 | ENSP00000393934.1 | |||
TBR1 | ENST00000463544.1 | n.1465G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
TBR1 | ENST00000410035.1 | c.-307G>C | upstream_gene_variant | 2 | ENSP00000387023.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Moderate global developmental delay Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at