7-151086831-C-CGGGG

Variant names:

• chr7-151086831-C-CGGGG
• rs1335961740
• NM_031946.7:c.91_92insGGGG

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_031946.7(AGAP3):​c.91_92insGGGG​(p.Val31GlyfsTer100) variant causes a frameshift 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: 31)
• Consequence: AGAP3 NM_031946.7 frameshift
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07
• Publications: 0 publications found

Genes affected

AGAP3 (HGNC:16923): (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3) This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_031946.7. 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
	AGAP3	NM_031946.7	MANE Select	c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 18	NP_114152.3
	AGAP3	NM_001350102.2		c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 16	NP_001337031.1
	AGAP3	NM_001042535.4		c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 9	NP_001036000.1	Q96P47-6

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	AGAP3	ENST00000397238.7	TSL:1 MANE Select	c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 18	ENSP00000380413.2	Q96P47-4
	AGAP3	ENST00000473312.5	TSL:1	c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 9	ENSP00000418921.1	Q96P47-6
	AGAP3	ENST00000961568.1		c.91_92insGGGG	p.Val31GlyfsTer100	frameshift	Exon 1 of 19	ENSP00000631627.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 18

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 558

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs1335961740; hg19: chr7-150783918;