chr3-105534718-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001627.4(ALCAM):c.603G>A(p.Met201Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,578 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.603G>A | p.Met201Ile | missense_variant | 6/16 | ENST00000306107.9 | |
ALCAM | NM_001243280.2 | c.603G>A | p.Met201Ile | missense_variant | 6/15 | ||
ALCAM | NM_001243281.2 | c.603G>A | p.Met201Ile | missense_variant | 6/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALCAM | ENST00000306107.9 | c.603G>A | p.Met201Ile | missense_variant | 6/16 | 1 | NM_001627.4 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251298Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135810
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461578Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727106
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at