chr19-4345946-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001300862.2(MPND):c.496C>T(p.His166Tyr) 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. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001300862.2 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 |
---|---|---|---|---|---|---|---|---|
MPND | NM_001300862.2 | c.496C>T | p.His166Tyr | missense_variant | Exon 3 of 13 | ENST00000599840.6 | NP_001287791.1 | |
MPND | NM_032868.6 | c.496C>T | p.His166Tyr | missense_variant | Exon 3 of 12 | NP_116257.2 | ||
MPND | NM_001159846.3 | c.496C>T | p.His166Tyr | missense_variant | Exon 3 of 11 | NP_001153318.1 | ||
MPND | XM_006722926.3 | c.496C>T | p.His166Tyr | missense_variant | Exon 3 of 13 | XP_006722989.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.496C>T (p.H166Y) alteration is located in exon 3 (coding exon 3) of the MPND gene. This alteration results from a C to T substitution at nucleotide position 496, causing the histidine (H) at amino acid position 166 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
Publications
No publications associated with this variant yet.