NM_003632.3:c.50C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003632.3(CNTNAP1):āc.50C>Gā(p.Ala17Gly) 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 152,124 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003632.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNTNAP1 | ENST00000264638.9 | c.50C>G | p.Ala17Gly | missense_variant | Exon 1 of 24 | 1 | NM_003632.3 | ENSP00000264638.3 | ||
CNTNAP1 | ENST00000591662.1 | n.50C>G | non_coding_transcript_exon_variant | Exon 1 of 24 | 1 | ENSP00000466571.1 | ||||
CCR10 | ENST00000591765.1 | c.-1201G>C | 5_prime_UTR_variant | Exon 1 of 2 | 3 | ENSP00000468135.1 | ||||
CCR10 | ENST00000591568.1 | c.-643+937G>C | intron_variant | Intron 1 of 1 | 3 | ENSP00000467331.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152124Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152124Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at