NM_033427.3:c.4855A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_033427.3(CTTNBP2):āc.4855A>Cā(p.Lys1619Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00109 in 1,614,078 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_033427.3 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: 0.00574 AC: 873AN: 152192Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00147 AC: 369AN: 251270Hom.: 5 AF XY: 0.00115 AC XY: 156AN XY: 135800
GnomAD4 exome AF: 0.000609 AC: 890AN: 1461768Hom.: 12 Cov.: 31 AF XY: 0.000525 AC XY: 382AN XY: 727186
GnomAD4 genome AF: 0.00576 AC: 877AN: 152310Hom.: 10 Cov.: 32 AF XY: 0.00546 AC XY: 407AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:2
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CTTNBP2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at