chr18-52906158-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM1BP4
The NM_005215.4(DCC):āc.527A>Gā(p.Asn176Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000172 in 1,614,118 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N176D) has been classified as Uncertain significance.
Frequency
Consequence
NM_005215.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DCC | NM_005215.4 | c.527A>G | p.Asn176Ser | missense_variant | 3/29 | ENST00000442544.7 | |
DCC | XM_017025568.2 | c.527A>G | p.Asn176Ser | missense_variant | 3/29 | ||
DCC | XM_017025569.2 | c.527A>G | p.Asn176Ser | missense_variant | 3/29 | ||
DCC | XM_047437311.1 | c.527A>G | p.Asn176Ser | missense_variant | 3/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCC | ENST00000442544.7 | c.527A>G | p.Asn176Ser | missense_variant | 3/29 | 1 | NM_005215.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152144Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000131 AC: 33AN: 250986Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135610
GnomAD4 exome AF: 0.000179 AC: 261AN: 1461856Hom.: 1 Cov.: 31 AF XY: 0.000175 AC XY: 127AN XY: 727230
GnomAD4 genome AF: 0.000112 AC: 17AN: 152262Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74432
ClinVar
Submissions by phenotype
Mirror movements 1 Other:1
not provided, no classification provided | literature only | GeneReviews | - | May be associated with a higher risk of CMM. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at