NM_001386010.1:c.1802G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001386010.1(ZCWPW1):c.1802G>T(p.Gly601Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,880 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_001386010.1 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 |
---|---|---|---|---|---|---|---|---|
ZCWPW1 | NM_001386010.1 | c.1802G>T | p.Gly601Val | missense_variant | Exon 18 of 18 | ENST00000684423.1 | NP_001372939.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZCWPW1 | ENST00000684423.1 | c.1802G>T | p.Gly601Val | missense_variant | Exon 18 of 18 | NM_001386010.1 | ENSP00000507762.1 | |||
ENSG00000289690 | ENST00000695708.1 | c.-1208+1550C>A | intron_variant | Intron 3 of 9 | ENSP00000512108.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249414Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135336
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1799G>T (p.G600V) alteration is located in exon 18 (coding exon 16) of the ZCWPW1 gene. This alteration results from a G to T substitution at nucleotide position 1799, causing the glycine (G) at amino acid position 600 to be replaced by a valine (V). 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