chr8-24472122-CAA-C

Variant names:

• chr8-24472122-CAA-C
• rs55708871
• NM_003817.4:c.633+3317_633+3318delAA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_003817.4(ADAM7):​c.633+3317_633+3318delAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00238 in 102,744 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0024 (0 hom., cov: 23)
• Consequence: ADAM7 NM_003817.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.682
• Publications: 0 publications found

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)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_003817.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADAM7	NM_003817.4	MANE Select	c.633+3317_633+3318delAA		intron	N/A	NP_003808.2	A0A384MTL6
	ADAM7-AS1	NR_125808.1		n.79+76416_79+76417delTT		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADAM7	ENST00000175238.10	TSL:1 MANE Select	c.633+3303_633+3304delAA		intron	N/A	ENSP00000175238.5	Q9H2U9-1
	ADAM7	ENST00000380789.5	TSL:5	c.633+3303_633+3304delAA		intron	N/A	ENSP00000370166.1	C9JK28
	ADAM7-AS1	ENST00000519689.1	TSL:4	n.185-84133_185-84132delTT		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.00237 AC: 244 AN: 102752 Hom.: 0 Cov.: 23

Gnomad AFR AF: 0.00686

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000742

Gnomad ASJ AF: 0.000407

Gnomad EAS AF: 0.000806

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000194

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000431

Gnomad OTH AF: 0.00208

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.00238 AC: 245 AN: 102744 Hom.: 0 Cov.: 23 AF XY: 0.00241 AC XY: 118 AN XY: 49004

African (AFR) AF: 0.00688 AC: 210 AN: 30504

American (AMR) AF: 0.000742 AC: 7 AN: 9430

Ashkenazi Jewish (ASJ) AF: 0.000407 AC: 1 AN: 2458

East Asian (EAS) AF: 0.000808 AC: 3 AN: 3712

South Asian (SAS) AF: 0.00 AC: 0 AN: 2858

European-Finnish (FIN) AF: 0.000194 AC: 1 AN: 5142

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 178

European-Non Finnish (NFE) AF: 0.000431 AC: 20 AN: 46406

Other (OTH) AF: 0.00207 AC: 3 AN: 1452

Alfa AF: 0.00 Hom.: 13

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.68

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs55708871; hg19: chr8-24329635;