rs5788775

Positions:

• chr10-126208852-GTTTTT-G
• chr10-126208852-GTTTTT-GTTT
• chr10-126208852-GTTTTT-GTTTT
• chr10-126208852-GTTTTT-GTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTTTTTTTTTT
• chr10-126208852-GTTTTT-GTTTTTTTTTTTTTTTTT

Variant summary

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

The NM_001288973.2(ADAM12):​c.261-53552_261-53548delAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.00012 (0 hom., cov: 0)
• Consequence: ADAM12 NM_001288973.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.457

Genes affected

ADAM12 (HGNC:190): (ADAM metallopeptidase domain 12) This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ADAM12	NM_001288973.2	c.261-53552_261-53548delAAAAA		intron_variant		ENST00000448723.2	NP_001275902.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ADAM12	ENST00000448723.2	c.261-53552_261-53548delAAAAA		intron_variant		5	NM_001288973.2	ENSP00000391268.2
ADAM12	ENST00000368679.8	c.261-53552_261-53548delAAAAA		intron_variant		1		ENSP00000357668.4
ADAM12	ENST00000368676.8	c.261-53552_261-53548delAAAAA		intron_variant		1		ENSP00000357665.4

Frequencies

GnomAD3 genomes AF: 0.000117 AC: 17 AN: 145734 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000428

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000117 AC: 17 AN: 145790 Hom.: 0 Cov.: 0 AF XY: 0.0000708 AC XY: 5 AN XY: 70646

Gnomad4 AFR AF: 0.000427

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

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: rs5788775; hg19: chr10-127897421;