11-67455473-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_145200.5(CABP4):āc.50G>Cā(p.Gly17Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000139 in 1,610,912 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_145200.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000762 AC: 116AN: 152200Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000201 AC: 48AN: 239330Hom.: 2 AF XY: 0.000168 AC XY: 22AN XY: 131016
GnomAD4 exome AF: 0.0000740 AC: 108AN: 1458594Hom.: 0 Cov.: 31 AF XY: 0.0000620 AC XY: 45AN XY: 725416
GnomAD4 genome AF: 0.000762 AC: 116AN: 152318Hom.: 2 Cov.: 33 AF XY: 0.000685 AC XY: 51AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 15, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at