10-110498233-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004419.4(DUSP5):c.112A>T(p.Asn38Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000437 in 1,508,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004419.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000469 AC: 7AN: 149364Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000213 AC: 4AN: 187818Hom.: 0 AF XY: 0.00000945 AC XY: 1AN XY: 105824
GnomAD4 exome AF: 0.0000434 AC: 59AN: 1359606Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 27AN XY: 677368
GnomAD4 genome AF: 0.0000469 AC: 7AN: 149364Hom.: 0 Cov.: 32 AF XY: 0.0000412 AC XY: 3AN XY: 72844
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 17, 2023 | The c.112A>T (p.N38Y) alteration is located in exon 1 (coding exon 1) of the DUSP5 gene. This alteration results from a A to T substitution at nucleotide position 112, causing the asparagine (N) at amino acid position 38 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