6-31954668-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002904.6(NELFE):c.629G>A(p.Arg210Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000398 in 1,581,636 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_002904.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NELFE | NM_002904.6 | c.629G>A | p.Arg210Gln | missense_variant | Exon 7 of 11 | ENST00000375429.8 | NP_002895.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000333 AC: 5AN: 150172Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000483 AC: 12AN: 248324Hom.: 0 AF XY: 0.0000446 AC XY: 6AN XY: 134474
GnomAD4 exome AF: 0.0000405 AC: 58AN: 1431464Hom.: 0 Cov.: 32 AF XY: 0.0000365 AC XY: 26AN XY: 711422
GnomAD4 genome AF: 0.0000333 AC: 5AN: 150172Hom.: 0 Cov.: 31 AF XY: 0.0000545 AC XY: 4AN XY: 73374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.629G>A (p.R210Q) alteration is located in exon 7 (coding exon 6) of the NELFE gene. This alteration results from a G to A substitution at nucleotide position 629, causing the arginine (R) at amino acid position 210 to be replaced by a glutamine (Q). 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