NM_032147.5:c.2110G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032147.5(USP44):c.2110G>T(p.Asp704Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000394 in 152,152 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_032147.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
USP44 | NM_032147.5 | c.2110G>T | p.Asp704Tyr | missense_variant | Exon 6 of 6 | ENST00000258499.8 | NP_115523.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USP44 | ENST00000258499.8 | c.2110G>T | p.Asp704Tyr | missense_variant | Exon 6 of 6 | 1 | NM_032147.5 | ENSP00000258499.3 | ||
USP44 | ENST00000393091.6 | c.2110G>T | p.Asp704Tyr | missense_variant | Exon 6 of 6 | 1 | ENSP00000376806.2 | |||
USP44 | ENST00000537435.2 | c.2110G>T | p.Asp704Tyr | missense_variant | Exon 6 of 6 | 1 | ENSP00000442629.2 | |||
USP44 | ENST00000552440 | c.*217G>T | 3_prime_UTR_variant | Exon 3 of 3 | 5 | ENSP00000448670.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251420Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135880
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2110G>T (p.D704Y) alteration is located in exon 6 (coding exon 5) of the USP44 gene. This alteration results from a G to T substitution at nucleotide position 2110, causing the aspartic acid (D) at amino acid position 704 to be replaced by a tyrosine (Y). 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