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GeneBe

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

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
AUTS2NM_015570.4 linkuse as main transcriptc.41_46dup p.Arg15_Ser16insTrpArg inframe_insertion 1/19 ENST00000342771.10

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
AUTS2ENST00000342771.10 linkuse as main transcriptc.41_46dup p.Arg15_Ser16insTrpArg inframe_insertion 1/191 NM_015570.4 P4Q8WXX7-1
AUTS2ENST00000403018.3 linkuse as main transcriptc.41_46dup p.Arg15_Ser16insTrpArg inframe_insertion 1/51 Q8WXX7-3
AUTS2ENST00000406775.6 linkuse as main transcriptc.41_46dup p.Arg15_Ser16insTrpArg inframe_insertion 1/181 Q8WXX7-2
AUTS2ENST00000644939.1 linkuse as main transcriptc.41_46dup p.Arg15_Ser16insTrpArg inframe_insertion 1/19 A1

Frequencies

GnomAD3 genomes
Cov.:
32

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 submitterclinical testingGeneDxJul 22, 2019Not 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.

Other links and lift over

hg19: chr7-69064679;