10-101003993-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001318100.2(LZTS2):c.895C>T(p.Arg299Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000187 in 1,612,852 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001318100.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LZTS2 | NM_001318100.2 | c.895C>T | p.Arg299Trp | missense_variant | 3/5 | ENST00000454422.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LZTS2 | ENST00000454422.2 | c.895C>T | p.Arg299Trp | missense_variant | 3/5 | 2 | NM_001318100.2 | P1 | |
LZTS2 | ENST00000370220.1 | c.895C>T | p.Arg299Trp | missense_variant | 2/4 | 1 | P1 | ||
LZTS2 | ENST00000370223.7 | c.895C>T | p.Arg299Trp | missense_variant | 3/5 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 248914Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 134986
GnomAD4 exome AF: 0.000190 AC: 277AN: 1460534Hom.: 1 Cov.: 31 AF XY: 0.000183 AC XY: 133AN XY: 726512
GnomAD4 genome AF: 0.000158 AC: 24AN: 152318Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.895C>T (p.R299W) alteration is located in exon 3 (coding exon 2) of the LZTS2 gene. This alteration results from a C to T substitution at nucleotide position 895, causing the arginine (R) at amino acid position 299 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at