14-102938378-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_006035.4(CDC42BPB):c.4861G>T(p.Gly1621Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,198 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006035.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDC42BPB | NM_006035.4 | c.4861G>T | p.Gly1621Cys | missense_variant | 35/37 | ENST00000361246.7 | |
CDC42BPB | NM_001411054.1 | c.4783G>T | p.Gly1595Cys | missense_variant | 34/36 | ||
CDC42BPB | XM_005268227.2 | c.4912G>T | p.Gly1638Cys | missense_variant | 36/38 | ||
CDC42BPB | XM_005268228.2 | c.4834G>T | p.Gly1612Cys | missense_variant | 35/37 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDC42BPB | ENST00000361246.7 | c.4861G>T | p.Gly1621Cys | missense_variant | 35/37 | 1 | NM_006035.4 | P1 | |
CDC42BPB | ENST00000559043.2 | c.4783G>T | p.Gly1595Cys | missense_variant | 34/36 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000509 AC: 1AN: 196466Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 104612
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at