rs200789033
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_181711.4(TAMALIN):c.1084G>A(p.Gly362Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0104 in 1,553,592 control chromosomes in the GnomAD database, including 105 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G362D) has been classified as Likely benign.
Frequency
Consequence
NM_181711.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAMALIN | NM_181711.4 | c.1084G>A | p.Gly362Ser | missense_variant | 8/8 | ENST00000293662.9 | |
TAMALIN | NM_001271856.2 | c.655G>A | p.Gly219Ser | missense_variant | 7/7 | ||
TAMALIN | XM_005268691.4 | c.694G>A | p.Gly232Ser | missense_variant | 8/8 | ||
TAMALIN | XM_047428439.1 | c.694G>A | p.Gly232Ser | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAMALIN | ENST00000293662.9 | c.1084G>A | p.Gly362Ser | missense_variant | 8/8 | 1 | NM_181711.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00699 AC: 1057AN: 151286Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00635 AC: 1006AN: 158510Hom.: 6 AF XY: 0.00661 AC XY: 587AN XY: 88766
GnomAD4 exome AF: 0.0108 AC: 15175AN: 1402196Hom.: 98 Cov.: 32 AF XY: 0.0105 AC XY: 7325AN XY: 695192
GnomAD4 genome ? AF: 0.00698 AC: 1057AN: 151396Hom.: 7 Cov.: 32 AF XY: 0.00649 AC XY: 480AN XY: 73934
ClinVar
Submissions by phenotype
Anophthalmia-microphthalmia syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Paul Sabatier University EA-4555, Paul Sabatier University | Jan 01, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at