chr17-49506586-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_002507.4(NGFR):c.496C>T(p.Pro166Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000213 in 1,458,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002507.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NGFR | ENST00000172229.8 | c.496C>T | p.Pro166Ser | missense_variant | Exon 3 of 6 | 1 | NM_002507.4 | ENSP00000172229.3 | ||
NGFR | ENST00000504201.1 | c.214C>T | p.Pro72Ser | missense_variant | Exon 3 of 6 | 2 | ENSP00000421731.1 | |||
NGFR-AS1 | ENST00000514506.1 | n.378-86G>A | intron_variant | Intron 2 of 2 | 2 | |||||
NGFR | ENST00000509200.5 | c.*201C>T | downstream_gene_variant | 4 | ENSP00000421514.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000856 AC: 2AN: 233600Hom.: 0 AF XY: 0.00000778 AC XY: 1AN XY: 128578
GnomAD4 exome AF: 0.0000213 AC: 31AN: 1458130Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 725242
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.496C>T (p.P166S) alteration is located in exon 3 (coding exon 3) of the NGFR gene. This alteration results from a C to T substitution at nucleotide position 496, causing the proline (P) at amino acid position 166 to be replaced by a serine (S). 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