16-76489856-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033401.5(CNTNAP4):āc.2053A>Gā(p.Lys685Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033401.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNTNAP4 | ENST00000611870.5 | c.2053A>G | p.Lys685Glu | missense_variant | Exon 13 of 24 | 1 | NM_033401.5 | ENSP00000479811.1 | ||
ENSG00000287694 | ENST00000655556.1 | n.2053A>G | non_coding_transcript_exon_variant | Exon 13 of 25 | ENSP00000499374.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1423154Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 704302
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2053A>G (p.K685E) alteration is located in exon 13 (coding exon 13) of the CNTNAP4 gene. This alteration results from a A to G substitution at nucleotide position 2053, causing the lysine (K) at amino acid position 685 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.