10-103571714-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_004210.5(NEURL1):c.541C>T(p.Arg181Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,614,110 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NEURL1 | NM_004210.5 | c.541C>T | p.Arg181Cys | missense_variant | Exon 3 of 6 | ENST00000369780.9 | NP_004201.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEURL1 | ENST00000369780.9 | c.541C>T | p.Arg181Cys | missense_variant | Exon 3 of 6 | 1 | NM_004210.5 | ENSP00000358795.4 | ||
NEURL1 | ENST00000437579.1 | c.490C>T | p.Arg164Cys | missense_variant | Exon 3 of 3 | 2 | ENSP00000416709.1 | |||
NEURL1 | ENST00000455386.1 | c.316C>T | p.Arg106Cys | missense_variant | Exon 3 of 3 | 2 | ENSP00000387714.1 | |||
NEURL1 | ENST00000465048.1 | n.38C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152266Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251364Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135874
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461844Hom.: 0 Cov.: 32 AF XY: 0.0000344 AC XY: 25AN XY: 727228
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.541C>T (p.R181C) alteration is located in exon 3 (coding exon 3) of the NEURL1 gene. This alteration results from a C to T substitution at nucleotide position 541, causing the arginine (R) at amino acid position 181 to be replaced by a cysteine (C). 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