8-73422625-AC-TA

Variant names:

• chr8-73422625-AC-TA
• NM_001164380.2:c.1607_1608delGTinsTA
• STAU2 p.Gly536Val

Variant summary

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

The NM_001164380.2(STAU2):​c.1607_1608delGTinsTA​(p.Gly536Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: STAU2 NM_001164380.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.77
• Publications: 0 publications found

Genes affected

STAU2 (HGNC:11371): (staufen double-stranded RNA binding protein 2) Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

STAU2-AS1 (HGNC:44101): (STAU2 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_001164380.2. 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
	STAU2	NM_001164380.2	MANE Select	c.1607_1608delGTinsTA	p.Gly536Val	missense	N/A	NP_001157852.1	Q9NUL3-1
	STAU2	NM_001164381.2		c.1511_1512delGTinsTA	p.Gly504Val	missense	N/A	NP_001157853.1	Q9NUL3-2
	STAU2	NM_001164382.2		c.1409_1410delGTinsTA	p.Gly470Val	missense	N/A	NP_001157854.1	Q9NUL3-7

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	STAU2	ENST00000524300.6	TSL:2 MANE Select	c.1607_1608delGTinsTA	p.Gly536Val	missense	N/A	ENSP00000428756.1	Q9NUL3-1
	STAU2	ENST00000522695.5	TSL:1	c.1511_1512delGTinsTA	p.Gly504Val	missense	N/A	ENSP00000428456.1	Q9NUL3-2
	STAU2	ENST00000946925.1		c.1613_1614delGTinsTA	p.Gly538Val	missense	N/A	ENSP00000616984.1

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		2.8

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr8-74334860;