chr8-24404013-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014479.3(ADAMDEC1):c.1331A>T(p.Asn444Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,200 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N444S) has been classified as Likely benign.
Frequency
Consequence
NM_014479.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMDEC1 | NM_014479.3 | c.1331A>T | p.Asn444Ile | missense_variant | 13/14 | ENST00000256412.8 | |
ADAM7-AS1 | NR_125808.1 | n.80-16022T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMDEC1 | ENST00000256412.8 | c.1331A>T | p.Asn444Ile | missense_variant | 13/14 | 1 | NM_014479.3 | P1 | |
ADAM7-AS1 | ENST00000519689.1 | n.185-16022T>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250754Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135514
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461200Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 726880
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at