rs34251012
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033401.5(CNTNAP4):āc.826C>Gā(p.Leu276Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0225 in 1,613,098 control chromosomes in the GnomAD database, including 634 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_033401.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNTNAP4 | NM_033401.5 | c.826C>G | p.Leu276Val | missense_variant | 6/24 | ENST00000611870.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNTNAP4 | ENST00000611870.5 | c.826C>G | p.Leu276Val | missense_variant | 6/24 | 1 | NM_033401.5 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0308 AC: 4686AN: 152060Hom.: 98 Cov.: 31
GnomAD3 exomes AF: 0.0247 AC: 6163AN: 249732Hom.: 155 AF XY: 0.0250 AC XY: 3370AN XY: 134914
GnomAD4 exome AF: 0.0216 AC: 31530AN: 1460920Hom.: 536 Cov.: 32 AF XY: 0.0226 AC XY: 16416AN XY: 726654
GnomAD4 genome ? AF: 0.0308 AC: 4688AN: 152178Hom.: 98 Cov.: 31 AF XY: 0.0301 AC XY: 2242AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at