8-39746584-G-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001464.5(ADAM2):c.2062C>G(p.Pro688Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000566 in 1,606,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001464.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM2 | ENST00000265708.9 | c.2062C>G | p.Pro688Ala | missense_variant | Exon 19 of 21 | 1 | NM_001464.5 | ENSP00000265708.4 | ||
ADAM2 | ENST00000347580.8 | c.2005C>G | p.Pro669Ala | missense_variant | Exon 18 of 20 | 1 | ENSP00000343854.4 | |||
ADAM2 | ENST00000379853.6 | c.1594C>G | p.Pro532Ala | missense_variant | Exon 15 of 17 | 1 | ENSP00000369182.2 | |||
ADAM2 | ENST00000521880.5 | c.1873C>G | p.Pro625Ala | missense_variant | Exon 18 of 20 | 2 | ENSP00000429352.1 |
Frequencies
GnomAD3 genomes AF: 0.000362 AC: 55AN: 151974Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000691 AC: 17AN: 245870 AF XY: 0.0000527 show subpopulations
GnomAD4 exome AF: 0.0000247 AC: 36AN: 1454594Hom.: 0 Cov.: 30 AF XY: 0.0000166 AC XY: 12AN XY: 723656 show subpopulations
GnomAD4 genome AF: 0.000362 AC: 55AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.000377 AC XY: 28AN XY: 74336 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2062C>G (p.P688A) alteration is located in exon 19 (coding exon 19) of the ADAM2 gene. This alteration results from a C to G substitution at nucleotide position 2062, causing the proline (P) at amino acid position 688 to be replaced by an alanine (A). 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