10-103570913-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004210.5(NEURL1):c.127C>T(p.His43Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000658 in 152,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004210.5 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 |
---|---|---|---|---|---|---|---|---|
NEURL1 | NM_004210.5 | c.127C>T | p.His43Tyr | missense_variant | Exon 2 of 6 | ENST00000369780.9 | NP_004201.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEURL1 | ENST00000369780.9 | c.127C>T | p.His43Tyr | missense_variant | Exon 2 of 6 | 1 | NM_004210.5 | ENSP00000358795.4 | ||
NEURL1 | ENST00000437579.1 | c.76C>T | p.His26Tyr | missense_variant | Exon 2 of 3 | 2 | ENSP00000416709.1 | |||
NEURL1 | ENST00000455386 | c.-99C>T | 5_prime_UTR_variant | Exon 2 of 3 | 2 | ENSP00000387714.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152078Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.127C>T (p.H43Y) alteration is located in exon 2 (coding exon 2) of the NEURL1 gene. This alteration results from a C to T substitution at nucleotide position 127, causing the histidine (H) at amino acid position 43 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