rs11101672
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001109.5(ADAM8):c.2064-132C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.822 in 840,092 control chromosomes in the GnomAD database, including 288,767 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.73 ( 43245 hom., cov: 34)
Exomes 𝑓: 0.84 ( 245522 hom. )
Consequence
ADAM8
NM_001109.5 intron
NM_001109.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.542
Genes affected
ADAM8 (HGNC:215): (ADAM metallopeptidase domain 8) This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.905 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAM8 | NM_001109.5 | c.2064-132C>G | intron_variant | ENST00000445355.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM8 | ENST00000445355.8 | c.2064-132C>G | intron_variant | 1 | NM_001109.5 | P2 | |||
ADAM8 | ENST00000415217.7 | c.1949-184C>G | intron_variant | 1 | A2 | ||||
ADAM8 | ENST00000485491.6 | c.1869-132C>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.732 AC: 111391AN: 152094Hom.: 43227 Cov.: 34
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GnomAD4 exome AF: 0.842 AC: 579196AN: 687880Hom.: 245522 AF XY: 0.842 AC XY: 280274AN XY: 332670
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GnomAD4 genome ? AF: 0.732 AC: 111444AN: 152212Hom.: 43245 Cov.: 34 AF XY: 0.739 AC XY: 54980AN XY: 74402
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at