chr3-191276830-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_198152.5(UTS2B):āc.217A>Gā(p.Asn73Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,459,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_198152.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UTS2B | NM_198152.5 | c.217A>G | p.Asn73Asp | missense_variant | 7/9 | ENST00000340524.10 | NP_937795.2 | |
UTS2B | XM_017006091.2 | c.217A>G | p.Asn73Asp | missense_variant | 6/8 | XP_016861580.1 | ||
UTS2B | XM_011512631.3 | c.217A>G | p.Asn73Asp | missense_variant | 6/8 | XP_011510933.1 | ||
UTS2B | XM_047447899.1 | c.217A>G | p.Asn73Asp | missense_variant | 6/8 | XP_047303855.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UTS2B | ENST00000340524.10 | c.217A>G | p.Asn73Asp | missense_variant | 7/9 | 2 | NM_198152.5 | ENSP00000340526 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249912Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135154
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459936Hom.: 0 Cov.: 29 AF XY: 0.00000413 AC XY: 3AN XY: 726306
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.217A>G (p.N73D) alteration is located in exon 7 (coding exon 3) of the UTS2B gene. This alteration results from a A to G substitution at nucleotide position 217, causing the asparagine (N) at amino acid position 73 to be replaced by an aspartic acid (D). 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