chr7-16685987-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014038.3(BZW2):c.488C>T(p.Thr163Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000393 in 1,603,248 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 (★).
Frequency
Consequence
NM_014038.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BZW2 | NM_014038.3 | c.488C>T | p.Thr163Ile | missense_variant | 6/12 | ENST00000258761.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BZW2 | ENST00000258761.8 | c.488C>T | p.Thr163Ile | missense_variant | 6/12 | 1 | NM_014038.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000179 AC: 27AN: 151060Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000298 AC: 7AN: 234828Hom.: 0 AF XY: 0.0000317 AC XY: 4AN XY: 126094
GnomAD4 exome AF: 0.0000248 AC: 36AN: 1452076Hom.: 0 Cov.: 36 AF XY: 0.0000194 AC XY: 14AN XY: 720972
GnomAD4 genome AF: 0.000179 AC: 27AN: 151172Hom.: 0 Cov.: 31 AF XY: 0.000163 AC XY: 12AN XY: 73734
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at