chr9-137040423-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015392.4(NPDC1):c.722G>A(p.Arg241Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000574 in 1,551,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015392.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NPDC1 | ENST00000371601.5 | c.722G>A | p.Arg241Gln | missense_variant | Exon 7 of 9 | 1 | NM_015392.4 | ENSP00000360660.4 | ||
ENSG00000279073 | ENST00000622933.1 | c.-36G>A | upstream_gene_variant | 3 | ENSP00000485208.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000378 AC: 6AN: 158752Hom.: 0 AF XY: 0.0000357 AC XY: 3AN XY: 83994
GnomAD4 exome AF: 0.0000579 AC: 81AN: 1399590Hom.: 0 Cov.: 34 AF XY: 0.0000623 AC XY: 43AN XY: 690684
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.722G>A (p.R241Q) alteration is located in exon 7 (coding exon 7) of the NPDC1 gene. This alteration results from a G to A substitution at nucleotide position 722, causing the arginine (R) at amino acid position 241 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