chr6-44282469-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_182539.4(TCTE1):c.937G>C(p.Asp313His) 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_182539.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TCTE1 | ENST00000371505.5 | c.937G>C | p.Asp313His | missense_variant | Exon 4 of 5 | 1 | NM_182539.4 | ENSP00000360560.4 | ||
ENSG00000272442 | ENST00000505802.1 | n.312+8963C>G | intron_variant | Intron 1 of 9 | 2 | ENSP00000424257.1 | ||||
TMEM151B | ENST00000438774.2 | c.576+8963C>G | intron_variant | Intron 2 of 2 | 3 | ENSP00000409337.2 | ||||
TCTE1 | ENST00000371504.1 | c.388-2079G>C | intron_variant | Intron 1 of 1 | 3 | ENSP00000360559.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.937G>C (p.D313H) alteration is located in exon 4 (coding exon 3) of the TCTE1 gene. This alteration results from a G to C substitution at nucleotide position 937, causing the aspartic acid (D) at amino acid position 313 to be replaced by a histidine (H). 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