8-24313553-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014265.6(ADAM28):āc.549C>Gā(p.Asn183Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00007 in 1,613,556 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_014265.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAM28 | NM_014265.6 | c.549C>G | p.Asn183Lys | missense_variant | 6/23 | ENST00000265769.9 | NP_055080.2 | |
ADAM7-AS1 | NR_125808.1 | n.502-12624G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM28 | ENST00000265769.9 | c.549C>G | p.Asn183Lys | missense_variant | 6/23 | 1 | NM_014265.6 | ENSP00000265769 | A2 | |
ADAM7-AS1 | ENST00000519689.1 | n.607-12624G>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 250864Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135546
GnomAD4 exome AF: 0.0000746 AC: 109AN: 1461432Hom.: 0 Cov.: 31 AF XY: 0.0000619 AC XY: 45AN XY: 727040
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2022 | The c.549C>G (p.N183K) alteration is located in exon 6 (coding exon 6) of the ADAM28 gene. This alteration results from a C to G substitution at nucleotide position 549, causing the asparagine (N) at amino acid position 183 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at