chrX-50607728-T-TTCC
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_020717.5(SHROOM4):c.3411_3413dupGGA(p.Glu1138dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.282 in 1,091,571 control chromosomes in the GnomAD database, including 29,069 homozygotes. There are 71,921 hemizygotes in GnomAD. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020717.5 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SHROOM4 | ENST00000376020.9 | c.3411_3413dupGGA | p.Glu1138dup | disruptive_inframe_insertion | Exon 6 of 9 | 2 | NM_020717.5 | ENSP00000365188.2 | ||
SHROOM4 | ENST00000289292.11 | c.3411_3413dupGGA | p.Glu1138dup | disruptive_inframe_insertion | Exon 6 of 10 | 1 | ENSP00000289292.7 | |||
SHROOM4 | ENST00000460112.3 | c.3063_3065dupGGA | p.Glu1022dup | disruptive_inframe_insertion | Exon 5 of 8 | 5 | ENSP00000421450.1 |
Frequencies
GnomAD3 genomes AF: 0.273 AC: 28804AN: 105509Hom.: 3329 Cov.: 14 AF XY: 0.235 AC XY: 6729AN XY: 28603
GnomAD3 exomes AF: 0.212 AC: 26912AN: 127114Hom.: 1812 AF XY: 0.103 AC XY: 3362AN XY: 32658
GnomAD4 exome AF: 0.283 AC: 278624AN: 986025Hom.: 25750 Cov.: 30 AF XY: 0.229 AC XY: 65191AN XY: 284763
GnomAD4 genome AF: 0.273 AC: 28779AN: 105546Hom.: 3319 Cov.: 14 AF XY: 0.235 AC XY: 6730AN XY: 28652
ClinVar
Submissions by phenotype
not specified Benign:3
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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X-linked intellectual disability, Stocco dos Santos type Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at