chr16-1366283-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001372107.1(UNKL):c.2159C>T(p.Ala720Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000445 in 1,594,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001372107.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNKL | NM_001372107.1 | c.2159C>T | p.Ala720Val | missense_variant | 15/15 | ENST00000389221.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNKL | ENST00000389221.9 | c.2159C>T | p.Ala720Val | missense_variant | 15/15 | 5 | NM_001372107.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000277 AC: 6AN: 216644Hom.: 0 AF XY: 0.0000254 AC XY: 3AN XY: 118308
GnomAD4 exome AF: 0.0000409 AC: 59AN: 1442442Hom.: 0 Cov.: 30 AF XY: 0.0000363 AC XY: 26AN XY: 715982
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | The c.2000C>T (p.A667V) alteration is located in exon 15 (coding exon 15) of the UNKL gene. This alteration results from a C to T substitution at nucleotide position 2000, causing the alanine (A) at amino acid position 667 to be replaced by a valine (V). 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