chr8-24323862-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014265.6(ADAM28):c.749C>T(p.Ala250Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000931 in 1,611,638 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 (★).
Frequency
Consequence
NM_014265.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAM28 | NM_014265.6 | c.749C>T | p.Ala250Val | missense_variant | 9/23 | ENST00000265769.9 | NP_055080.2 | |
ADAM7-AS1 | NR_125808.1 | n.502-22933G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM28 | ENST00000265769.9 | c.749C>T | p.Ala250Val | missense_variant | 9/23 | 1 | NM_014265.6 | ENSP00000265769 | A2 | |
ADAM7-AS1 | ENST00000519689.1 | n.607-22933G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151816Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250440Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135360
GnomAD4 exome AF: 0.00000891 AC: 13AN: 1459822Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726218
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151816Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74130
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.749C>T (p.A250V) alteration is located in exon 9 (coding exon 9) of the ADAM28 gene. This alteration results from a C to T substitution at nucleotide position 749, causing the alanine (A) at amino acid position 250 to be replaced by a valine (V). 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