chr9-69336241-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001347995.2(ENTREP1):c.443C>A(p.Thr148Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000377 in 1,589,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T148I) has been classified as Likely benign.
Frequency
Consequence
NM_001347995.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENTREP1 | NM_001347995.2 | c.443C>A | p.Thr148Lys | missense_variant | Exon 2 of 11 | ENST00000303068.14 | NP_001334924.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152100Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000348 AC: 5AN: 1437876Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 716224
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152100Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at