chr10-100482762-C-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_003393.4(WNT8B):c.1002C>A(p.Ser334Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00138 in 1,592,354 control chromosomes in the GnomAD database, including 16 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003393.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WNT8B | NM_003393.4 | c.1002C>A | p.Ser334Arg | missense_variant | 6/6 | ENST00000343737.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNT8B | ENST00000343737.6 | c.1002C>A | p.Ser334Arg | missense_variant | 6/6 | 1 | NM_003393.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00703 AC: 1070AN: 152194Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00185 AC: 406AN: 219052Hom.: 4 AF XY: 0.00153 AC XY: 185AN XY: 121020
GnomAD4 exome AF: 0.000783 AC: 1128AN: 1440042Hom.: 7 Cov.: 33 AF XY: 0.000663 AC XY: 473AN XY: 713164
GnomAD4 genome AF: 0.00704 AC: 1072AN: 152312Hom.: 9 Cov.: 32 AF XY: 0.00685 AC XY: 510AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 13, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at