10-103570931-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_004210.5(NEURL1):c.145T>C(p.Cys49Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C49Y) has been classified 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEURL1 | NM_004210.5 | c.145T>C | p.Cys49Arg | missense_variant | 2/6 | ENST00000369780.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEURL1 | ENST00000369780.9 | c.145T>C | p.Cys49Arg | missense_variant | 2/6 | 1 | NM_004210.5 | P1 | |
NEURL1 | ENST00000437579.1 | c.94T>C | p.Cys32Arg | missense_variant | 2/3 | 2 | |||
NEURL1 | ENST00000455386.1 | c.-81T>C | 5_prime_UTR_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250678Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135746
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461660Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727140
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.145T>C (p.C49R) alteration is located in exon 2 (coding exon 2) of the NEURL1 gene. This alteration results from a T to C substitution at nucleotide position 145, causing the cysteine (C) at amino acid position 49 to be replaced by an arginine (R). 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