NM_003817.4:c.633+3317_633+3318dupAA

Variant names:

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

Variant summary

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

The NM_003817.4(ADAM7):​c.633+3317_633+3318dupAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000886 in 102,756 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 0.00089 (0 hom., cov: 23)
• Consequence: ADAM7 NM_003817.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.386

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

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
ADAM7	NM_003817.4	c.633+3317_633+3318dupAA		intron_variant	Intron 7 of 21	ENST00000175238.10	NP_003808.2
ADAM7-AS1	NR_125808.1	n.79+76416_79+76417dupTT		intron_variant	Intron 1 of 5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADAM7	ENST00000175238.10	c.633+3302_633+3303insAA		intron_variant	Intron 7 of 21	1	NM_003817.4	ENSP00000175238.5
ADAM7	ENST00000380789.5	c.633+3302_633+3303insAA		intron_variant	Intron 7 of 22	5		ENSP00000370166.1
ADAM7-AS1	ENST00000519689.1	n.185-84132_185-84131insTT		intron_variant	Intron 2 of 4	4
ADAM7-AS1	ENST00000523578.5	n.79+76417_79+76418insTT		intron_variant	Intron 1 of 3	4

Frequencies

GnomAD3 genomes AF: 0.000876 AC: 90 AN: 102764 Hom.: 0 Cov.: 23

Gnomad AFR AF: 0.00210

Gnomad AMI AF: 0.0315

Gnomad AMR AF: 0.000106

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000268

Gnomad SAS AF: 0.000348

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000862

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000886 AC: 91 AN: 102756 Hom.: 0 Cov.: 23 AF XY: 0.000898 AC XY: 44 AN XY: 49022

Gnomad4 AFR AF: 0.00213

Gnomad4 AMR AF: 0.000106

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000269

Gnomad4 SAS AF: 0.000350

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000862

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs55708871; hg19: chr8-24329635;