2-87753569-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_002665.4(PLGLB2):c.227T>C(p.Met76Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002665.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLGLB2 | ENST00000359481.9 | c.227T>C | p.Met76Thr | missense_variant | Exon 3 of 4 | 1 | NM_002665.4 | ENSP00000352458.4 | ||
PLGLB2 | ENST00000465361.1 | n.1198T>C | non_coding_transcript_exon_variant | Exon 2 of 3 | 1 | |||||
PLGLB2 | ENST00000410086.3 | n.227T>C | non_coding_transcript_exon_variant | Exon 3 of 5 | 3 | ENSP00000386317.3 | ||||
NCAL1 | ENST00000646855.1 | n.2764T>C | non_coding_transcript_exon_variant | Exon 20 of 22 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 97942Hom.: 0 Cov.: 12 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000369 AC: 2AN: 542656Hom.: 0 Cov.: 6 AF XY: 0.00000340 AC XY: 1AN XY: 294206
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000102 AC: 1AN: 97942Hom.: 0 Cov.: 12 AF XY: 0.00 AC XY: 0AN XY: 45524
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.227T>C (p.M76T) alteration is located in exon 3 (coding exon 3) of the PLGLB2 gene. This alteration results from a T to C substitution at nucleotide position 227, causing the methionine (M) at amino acid position 76 to be replaced by a threonine (T). 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