5-140671404-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_194249.3(DND1):c.951T>A(p.His317Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_194249.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DND1 | NM_194249.3 | c.951T>A | p.His317Gln | missense_variant | 4/4 | ENST00000542735.2 | NP_919225.1 | |
WDR55 | NM_017706.5 | c.*1750A>T | 3_prime_UTR_variant | 7/7 | ENST00000358337.10 | NP_060176.3 | ||
WDR55 | XM_005268469.4 | c.*172A>T | 3_prime_UTR_variant | 8/8 | XP_005268526.1 | |||
WDR55 | XM_017009600.3 | c.*1750A>T | 3_prime_UTR_variant | 8/8 | XP_016865089.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 18, 2022 | The c.951T>A (p.H317Q) alteration is located in exon 4 (coding exon 4) of the DND1 gene. This alteration results from a T to A substitution at nucleotide position 951, causing the histidine (H) at amino acid position 317 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.