rs3087468
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002528.7(NTHL1):c.691G>T(p.Asp231Tyr) 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. 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. D231E) has been classified as Uncertain significance.
Frequency
Consequence
NM_002528.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NTHL1 | NM_002528.7 | c.691G>T | p.Asp231Tyr | missense_variant | 5/6 | ENST00000651570.2 | |
NTHL1 | NM_001318193.2 | c.520G>T | p.Asp174Tyr | missense_variant | 4/5 | ||
NTHL1 | NM_001318194.2 | c.361G>T | p.Asp121Tyr | missense_variant | 5/6 | ||
NTHL1 | XM_047434171.1 | c.412G>T | p.Asp138Tyr | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTHL1 | ENST00000651570.2 | c.691G>T | p.Asp231Tyr | missense_variant | 5/6 | NM_002528.7 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at