2-69871782-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178439.5(GMCL1):c.1402A>T(p.Ile468Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000301 in 1,592,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178439.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GMCL1 | NM_178439.5 | c.1402A>T | p.Ile468Leu | missense_variant | 13/14 | ENST00000282570.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GMCL1 | ENST00000282570.4 | c.1402A>T | p.Ile468Leu | missense_variant | 13/14 | 1 | NM_178439.5 | P1 | |
GMCL1 | ENST00000495047.1 | n.346A>T | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000247 AC: 6AN: 242868Hom.: 0 AF XY: 0.0000229 AC XY: 3AN XY: 131280
GnomAD4 exome AF: 0.0000305 AC: 44AN: 1440298Hom.: 0 Cov.: 26 AF XY: 0.0000265 AC XY: 19AN XY: 716616
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2023 | The c.1402A>T (p.I468L) alteration is located in exon 13 (coding exon 13) of the GMCL1 gene. This alteration results from a A to T substitution at nucleotide position 1402, causing the isoleucine (I) at amino acid position 468 to be replaced by a leucine (L). 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