6-149946535-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025217.4(ULBP2):c.513G>T(p.Lys171Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000966 in 1,614,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ULBP2 | NM_025217.4 | c.513G>T | p.Lys171Asn | missense_variant | 3/5 | ENST00000367351.4 | |
ULBP2 | XM_047419377.1 | c.513G>T | p.Lys171Asn | missense_variant | 3/4 | ||
ULBP2 | XM_017011321.2 | c.513G>T | p.Lys171Asn | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ULBP2 | ENST00000367351.4 | c.513G>T | p.Lys171Asn | missense_variant | 3/5 | 1 | NM_025217.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152198Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000179 AC: 45AN: 251494Hom.: 0 AF XY: 0.000213 AC XY: 29AN XY: 135922
GnomAD4 exome AF: 0.0000971 AC: 142AN: 1461888Hom.: 0 Cov.: 34 AF XY: 0.000118 AC XY: 86AN XY: 727246
GnomAD4 genome AF: 0.0000919 AC: 14AN: 152316Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 27, 2023 | The c.513G>T (p.K171N) alteration is located in exon 3 (coding exon 3) of the ULBP2 gene. This alteration results from a G to T substitution at nucleotide position 513, causing the lysine (K) at amino acid position 171 to be replaced by an asparagine (N). 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