chr9-105694733-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018112.3(TMEM38B):c.73C>T(p.His25Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018112.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM38B | NM_018112.3 | c.73C>T | p.His25Tyr | missense_variant | Exon 1 of 6 | ENST00000374692.8 | NP_060582.1 | |
TMEM38B | XM_011518831.3 | c.73C>T | p.His25Tyr | missense_variant | Exon 1 of 7 | XP_011517133.1 | ||
TMEM38B | XM_011518832.4 | c.73C>T | p.His25Tyr | missense_variant | Exon 1 of 4 | XP_011517134.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.73C>T (p.H25Y) alteration is located in exon 1 (coding exon 1) of the TMEM38B gene. This alteration results from a C to T substitution at nucleotide position 73, causing the histidine (H) at amino acid position 25 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.