17-34587940-C-CTT
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP5_Moderate
The NM_001304438.2(TMEM132E):c.67+6798_67+6799dupTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Genomes: not found (cov: 32)
Consequence
TMEM132E
NM_001304438.2 intron
NM_001304438.2 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.180
Genes affected
TMEM132E (HGNC:26991): (transmembrane protein 132E) Involved in posterior lateral line neuromast hair cell development. Predicted to be located in cell body. Implicated in autosomal recessive nonsyndromic deafness 99. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 17-34587940-C-CTT is Pathogenic according to our data. Variant chr17-34587940-C-CTT is described in ClinVar as [Pathogenic]. Clinvar id is 3779448.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM132E | ENST00000631683.2 | c.67+6797_67+6798insTT | intron_variant | Intron 1 of 8 | 5 | NM_001304438.2 | ENSP00000487800.2 | |||
TMEM132E | ENST00000321639.7 | c.67+6797_67+6798insTT | intron_variant | Intron 1 of 9 | 5 | ENSP00000316532.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Familial cancer of breast;C2675520:Breast-ovarian cancer, familial, susceptibility to, 2 Pathogenic:1
Apr 01, 2019
Department of Pathology and Laboratory Medicine, Sinai Health System
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: research
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Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.