chr11-113757754-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004724.4(ZW10):āc.833A>Cā(p.Glu278Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,613,664 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004724.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ZW10 | NM_004724.4 | c.833A>C | p.Glu278Ala | missense_variant | 7/16 | ENST00000200135.8 | |
ZW10 | XM_017018558.3 | c.733+800A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZW10 | ENST00000200135.8 | c.833A>C | p.Glu278Ala | missense_variant | 7/16 | 1 | NM_004724.4 | P1 | |
ZW10 | ENST00000535142.5 | c.833A>C | p.Glu278Ala | missense_variant, NMD_transcript_variant | 7/16 | 2 | |||
ZW10 | ENST00000538209.1 | c.*85A>C | 3_prime_UTR_variant, NMD_transcript_variant | 4/6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251144Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135750
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461480Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 727054
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at