3-377918-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_006614.4(CHL1):c.1852G>A(p.Asp618Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000117 in 1,609,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_006614.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152010Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000892 AC: 22AN: 246716Hom.: 0 AF XY: 0.0000976 AC XY: 13AN XY: 133168
GnomAD4 exome AF: 0.000117 AC: 171AN: 1457240Hom.: 0 Cov.: 30 AF XY: 0.000128 AC XY: 93AN XY: 724548
GnomAD4 genome AF: 0.000118 AC: 18AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1852G>A (p.D618N) alteration is located in exon 16 (coding exon 14) of the CHL1 gene. This alteration results from a G to A substitution at nucleotide position 1852, causing the aspartic acid (D) at amino acid position 618 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at