4-76436338-C-CT
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_020859.4(SHROOM3):c.168+118_168+119insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.15 in 1,127,024 control chromosomes in the GnomAD database, including 13,732 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.16 ( 1915 hom., cov: 32)
Exomes 𝑓: 0.15 ( 11817 hom. )
Consequence
SHROOM3
NM_020859.4 intron
NM_020859.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.328
Genes affected
SHROOM3 (HGNC:30422): (shroom family member 3) This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 4-76436338-C-CT is Benign according to our data. Variant chr4-76436338-C-CT is described in ClinVar as [Benign]. Clinvar id is 1289955.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.223 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SHROOM3 | NM_020859.4 | c.168+118_168+119insT | intron_variant | ENST00000296043.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHROOM3 | ENST00000296043.7 | c.168+118_168+119insT | intron_variant | 1 | NM_020859.4 | P1 | |||
SHROOM3 | ENST00000466541.1 | n.75+118_75+119insT | intron_variant, non_coding_transcript_variant | 3 | |||||
SHROOM3 | ENST00000497440.5 | n.109+118_109+119insT | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.158 AC: 23955AN: 151908Hom.: 1911 Cov.: 32
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GnomAD4 exome AF: 0.149 AC: 145187AN: 974998Hom.: 11817 AF XY: 0.152 AC XY: 76155AN XY: 500006
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GnomAD4 genome ? AF: 0.158 AC: 23962AN: 152026Hom.: 1915 Cov.: 32 AF XY: 0.158 AC XY: 11702AN XY: 74288
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at