7-69599693-C-CGGCGGT

Variant summary

Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting

The NM_015570(AUTS2):c.41_46dup(p.Arg15_Ser16insTrpArg) variant causes a inframe insertion change. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Uncertain significance (★).

Frequency

Genomes: not found (cov: 32)

Consequence

AUTS2
NM_015570 inframe_insertion

Scores

Not classified

Clinical Significance

Uncertain significance criteria provided, single submitter U:1

Conservation

PhyloP100: 6.00

Links

AUTS2 (HGNC:14262):

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 1 ACMG points.

PM2

Very rare variant; Number of alleles below threshold, Median coverage is 32.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
AUTS2	NM_015570.4 linkuse as main transcript	c.41_46dup	p.Arg15_Ser16insTrpArg	inframe_insertion	1/19	ENST00000342771.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
AUTS2	ENST00000342771.10 linkuse as main transcript	c.41_46dup	p.Arg15_Ser16insTrpArg	inframe_insertion	1/19	1	NM_015570.4	P4	Q8WXX7-1
AUTS2	ENST00000403018.3 linkuse as main transcript	c.41_46dup	p.Arg15_Ser16insTrpArg	inframe_insertion	1/5	1			Q8WXX7-3
AUTS2	ENST00000406775.6 linkuse as main transcript	c.41_46dup	p.Arg15_Ser16insTrpArg	inframe_insertion	1/18	1			Q8WXX7-2
AUTS2	ENST00000644939.1 linkuse as main transcript	c.41_46dup	p.Arg15_Ser16insTrpArg	inframe_insertion	1/19			A1

Frequencies

GnomAD3 genomes

Cov.:

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

GeneDx

Jul 22, 2019

Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

No publications associated with this variant yet.