chr17-49506634-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002507.4(NGFR):c.544C>T(p.Arg182Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000362 in 1,380,216 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NGFR | ENST00000172229.8 | c.544C>T | p.Arg182Cys | missense_variant | Exon 3 of 6 | 1 | NM_002507.4 | ENSP00000172229.3 | ||
NGFR | ENST00000504201.1 | c.262C>T | p.Arg88Cys | missense_variant | Exon 3 of 6 | 2 | ENSP00000421731.1 | |||
NGFR-AS1 | ENST00000514506.1 | n.378-134G>A | intron_variant | Intron 2 of 2 | 2 | |||||
NGFR | ENST00000509200.5 | c.*249C>T | downstream_gene_variant | 4 | ENSP00000421514.1 |
Frequencies
GnomAD3 genomes AF: 0.0000141 AC: 2AN: 141566Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000242 AC: 3AN: 1238650Hom.: 0 Cov.: 33 AF XY: 0.00000328 AC XY: 2AN XY: 609498
GnomAD4 genome AF: 0.0000141 AC: 2AN: 141566Hom.: 0 Cov.: 31 AF XY: 0.0000146 AC XY: 1AN XY: 68290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.544C>T (p.R182C) 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 544, causing the arginine (R) at amino acid position 182 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