GeneBe

rs55708871

Variant names:

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_003817.4(ADAM7):​c.633+3311_633+3318delAAAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 23)

Consequence

ADAM7
NM_003817.4 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.682
Variant links:
Genes affected
ADAM7 (HGNC:214): (ADAM metallopeptidase domain 7) This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]
ADAM7-AS1 (HGNC:56152): (ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1)

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ADAM7NM_003817.4 linkc.633+3311_633+3318delAAAAAAAA intron_variant Intron 7 of 21 ENST00000175238.10 NP_003808.2 Q9H2U9-1A0A384MTL6
ADAM7-AS1NR_125808.1 linkn.79+76410_79+76417delTTTTTTTT intron_variant Intron 1 of 5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ADAM7ENST00000175238.10 linkc.633+3303_633+3310delAAAAAAAA intron_variant Intron 7 of 21 1 NM_003817.4 ENSP00000175238.5 Q9H2U9-1
ADAM7ENST00000380789.5 linkc.633+3303_633+3310delAAAAAAAA intron_variant Intron 7 of 22 5 ENSP00000370166.1 C9JK28
ADAM7-AS1ENST00000519689.1 linkn.185-84139_185-84132delTTTTTTTT intron_variant Intron 2 of 4 4
ADAM7-AS1ENST00000523578.5 linkn.79+76410_79+76417delTTTTTTTT intron_variant Intron 1 of 3 4

Frequencies

GnomAD3 genomes
Cov.:
23
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
23

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs55708871; hg19: chr8-24329635; API