16-11020219-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015226.3(CLEC16A):c.1330A>G(p.Ser444Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015226.3 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 |
---|---|---|---|---|---|---|---|
CLEC16A | NM_015226.3 | c.1330A>G | p.Ser444Gly | missense_variant | 12/24 | ENST00000409790.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLEC16A | ENST00000409790.6 | c.1330A>G | p.Ser444Gly | missense_variant | 12/24 | 5 | NM_015226.3 | A1 | |
CLEC16A | ENST00000409552.4 | c.1276A>G | p.Ser426Gly | missense_variant | 11/21 | 1 | |||
CLEC16A | ENST00000703130.1 | c.1324A>G | p.Ser442Gly | missense_variant | 11/23 | P4 | |||
CLEC16A | ENST00000494853.1 | n.805A>G | non_coding_transcript_exon_variant | 7/8 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 12, 2023 | The c.1330A>G (p.S444G) alteration is located in exon 12 (coding exon 12) of the CLEC16A gene. This alteration results from a A to G substitution at nucleotide position 1330, causing the serine (S) at amino acid position 444 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.