chr17-49510471-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002507.4(NGFR):c.628C>T(p.Pro210Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P210P) has been classified as Likely benign.
Frequency
Consequence
NM_002507.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NGFR | NM_002507.4 | c.628C>T | p.Pro210Ser | missense_variant | 4/6 | ENST00000172229.8 | |
NGFR-AS1 | NR_103773.1 | n.377+512G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NGFR | ENST00000172229.8 | c.628C>T | p.Pro210Ser | missense_variant | 4/6 | 1 | NM_002507.4 | P1 | |
NGFR-AS1 | ENST00000514506.1 | n.377+512G>A | intron_variant, non_coding_transcript_variant | 2 | |||||
NGFR | ENST00000504201.1 | c.346C>T | p.Pro116Ser | missense_variant | 4/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.628C>T (p.P210S) alteration is located in exon 4 (coding exon 4) of the NGFR gene. This alteration results from a C to T substitution at nucleotide position 628, causing the proline (P) at amino acid position 210 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
Publications
No publications associated with this variant yet.