12-112013565-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006817.4(ERP29):c.100C>T(p.His34Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,611,312 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006817.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERP29 | ENST00000261735.4 | c.100C>T | p.His34Tyr | missense_variant | Exon 1 of 3 | 1 | NM_006817.4 | ENSP00000261735.3 | ||
ERP29 | ENST00000553161.1 | n.137C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 1 | |||||
ERP29 | ENST00000455836.1 | c.100C>T | p.His34Tyr | missense_variant | Exon 1 of 2 | 2 | ENSP00000412083.1 | |||
ERP29 | ENST00000552052.1 | c.84C>T | p.Cys28Cys | synonymous_variant | Exon 1 of 2 | 3 | ENSP00000447472.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1459070Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 725882
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.100C>T (p.H34Y) alteration is located in exon 1 (coding exon 1) of the ERP29 gene. This alteration results from a C to T substitution at nucleotide position 100, causing the histidine (H) at amino acid position 34 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