chr3-105533623-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001627.4(ALCAM):āc.480A>Cā(p.Glu160Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001627.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALCAM | NM_001627.4 | c.480A>C | p.Glu160Asp | missense_variant | 5/16 | ENST00000306107.9 | |
ALCAM | NM_001243280.2 | c.480A>C | p.Glu160Asp | missense_variant | 5/15 | ||
ALCAM | NM_001243281.2 | c.480A>C | p.Glu160Asp | missense_variant | 5/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALCAM | ENST00000306107.9 | c.480A>C | p.Glu160Asp | missense_variant | 5/16 | 1 | NM_001627.4 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459620Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726120
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at