chr10-11463214-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014688.5(USP6NL):c.1714G>T(p.Ala572Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014688.5 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 |
---|---|---|---|---|---|---|---|
USP6NL | NM_014688.5 | c.1714G>T | p.Ala572Ser | missense_variant | 15/15 | ENST00000609104.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP6NL | ENST00000609104.6 | c.1714G>T | p.Ala572Ser | missense_variant | 15/15 | 1 | NM_014688.5 | P1 | |
USP6NL | ENST00000379237.6 | c.1783G>T | p.Ala595Ser | missense_variant | 14/14 | 5 | |||
USP6NL | ENST00000277575.5 | c.1765G>T | p.Ala589Ser | missense_variant | 14/14 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248438Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134874
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1461086Hom.: 0 Cov.: 33 AF XY: 0.00000550 AC XY: 4AN XY: 726868
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74484
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at