rs3744908
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001308210.2(TSHZ1):c.642T>C(p.Tyr214=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.38 in 1,612,406 control chromosomes in the GnomAD database, including 120,089 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.33 ( 8994 hom., cov: 32)
Exomes 𝑓: 0.39 ( 111095 hom. )
Consequence
TSHZ1
NM_001308210.2 synonymous
NM_001308210.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.910
Genes affected
TSHZ1 (HGNC:10669): (teashirt zinc finger homeobox 1) This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.62).
BP6
?
Variant 18-75286049-T-C is Benign according to our data. Variant chr18-75286049-T-C is described in ClinVar as [Benign]. Clinvar id is 327806.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr18-75286049-T-C is described in Lovd as [Benign].
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.404 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSHZ1 | NM_001308210.2 | c.642T>C | p.Tyr214= | synonymous_variant | 2/2 | ENST00000580243.3 | |
TSHZ1 | NM_005786.6 | c.507T>C | p.Tyr169= | synonymous_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSHZ1 | ENST00000580243.3 | c.642T>C | p.Tyr214= | synonymous_variant | 2/2 | 2 | NM_001308210.2 | P1 | |
TSHZ1 | ENST00000322038.5 | c.507T>C | p.Tyr169= | synonymous_variant | 2/2 | 1 | |||
TSHZ1 | ENST00000560918.2 | c.507T>C | p.Tyr169= | synonymous_variant | 2/2 | 4 | |||
TSHZ1 | ENST00000584217.1 | n.3186T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.325 AC: 49409AN: 151854Hom.: 8995 Cov.: 32
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GnomAD3 exomes AF: 0.352 AC: 87608AN: 248922Hom.: 16406 AF XY: 0.362 AC XY: 48771AN XY: 134656
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GnomAD4 exome AF: 0.386 AC: 563455AN: 1460434Hom.: 111095 Cov.: 67 AF XY: 0.387 AC XY: 281307AN XY: 726400
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GnomAD4 genome ? AF: 0.325 AC: 49421AN: 151972Hom.: 8994 Cov.: 32 AF XY: 0.325 AC XY: 24161AN XY: 74286
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ClinVar
Significance: Benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:2
Benign, no assertion criteria provided | clinical testing | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | - | - - |
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Aural atresia, congenital Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Sep 10, 2021 | - - |
TSHZ1-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 15, 2023 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
Cadd
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Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at