6-149942131-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_025217.4(ULBP2):c.59C>T(p.Ser20Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,611,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025217.4 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 |
---|---|---|---|---|---|---|---|
ULBP2 | NM_025217.4 | c.59C>T | p.Ser20Phe | missense_variant | 1/5 | ENST00000367351.4 | |
ULBP2 | XM_047419377.1 | c.59C>T | p.Ser20Phe | missense_variant | 1/4 | ||
ULBP2 | XM_017011321.2 | c.59C>T | p.Ser20Phe | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ULBP2 | ENST00000367351.4 | c.59C>T | p.Ser20Phe | missense_variant | 1/5 | 1 | NM_025217.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000206 AC: 5AN: 243012Hom.: 0 AF XY: 0.00000757 AC XY: 1AN XY: 132124
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1458706Hom.: 0 Cov.: 33 AF XY: 0.0000372 AC XY: 27AN XY: 725578
GnomAD4 genome AF: 0.000112 AC: 17AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2021 | The c.59C>T (p.S20F) alteration is located in exon 1 (coding exon 1) of the ULBP2 gene. This alteration results from a C to T substitution at nucleotide position 59, causing the serine (S) at amino acid position 20 to be replaced by a phenylalanine (F). 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