17-75834102-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP3BP6_Moderate
The NM_199242.3(UNC13D):c.2340C>T(p.Gly780=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,756 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G780G) has been classified as Likely benign.
Frequency
Consequence
NM_199242.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC13D | NM_199242.3 | c.2340C>T | p.Gly780= | synonymous_variant | 24/32 | ENST00000207549.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC13D | ENST00000207549.9 | c.2340C>T | p.Gly780= | synonymous_variant | 24/32 | 1 | NM_199242.3 | P1 | |
UNC13D | ENST00000412096.6 | c.2340C>T | p.Gly780= | synonymous_variant | 24/33 | 2 | |||
UNC13D | ENST00000699510.1 | c.1206C>T | p.Gly402= | synonymous_variant | 12/20 | ||||
UNC13D | ENST00000591563.5 | n.2610C>T | non_coding_transcript_exon_variant | 22/23 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250832Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135698
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461434Hom.: 0 Cov.: 33 AF XY: 0.00000825 AC XY: 6AN XY: 727012
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152322Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74486
ClinVar
Submissions by phenotype
Familial hemophagocytic lymphohistiocytosis 3 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 10, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at