X-105906508-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198465.4(NRK):c.940C>T(p.Arg314Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000867 in 1,153,409 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198465.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
NRK | ENST00000243300.14 | c.940C>T | p.Arg314Trp | missense_variant | Exon 11 of 29 | 1 | NM_198465.4 | ENSP00000434830.1 | ||
NRK | ENST00000428173.3 | n.940C>T | non_coding_transcript_exon_variant | Exon 11 of 23 | 2 | ENSP00000438378.2 |
Frequencies
GnomAD3 genomes AF: 0.0000184 AC: 2AN: 108621Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 31287
GnomAD4 exome AF: 0.00000766 AC: 8AN: 1044788Hom.: 0 Cov.: 22 AF XY: 0.00000313 AC XY: 1AN XY: 319994
GnomAD4 genome AF: 0.0000184 AC: 2AN: 108621Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 31287
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.940C>T (p.R314W) alteration is located in exon 11 (coding exon 11) of the NRK gene. This alteration results from a C to T substitution at nucleotide position 940, causing the arginine (R) at amino acid position 314 to be replaced by a tryptophan (W). 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