11-122851732-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_019604.4(CRTAM):c.233C>A(p.Ala78Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00594 in 1,614,088 control chromosomes in the GnomAD database, including 442 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_019604.4 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: 0.0318 AC: 4831AN: 152150Hom.: 238 Cov.: 32
GnomAD3 exomes AF: 0.00819 AC: 2058AN: 251380Hom.: 92 AF XY: 0.00620 AC XY: 842AN XY: 135854
GnomAD4 exome AF: 0.00325 AC: 4744AN: 1461820Hom.: 203 Cov.: 31 AF XY: 0.00276 AC XY: 2004AN XY: 727216
GnomAD4 genome AF: 0.0318 AC: 4848AN: 152268Hom.: 239 Cov.: 32 AF XY: 0.0307 AC XY: 2283AN XY: 74452
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at