chr6-31954596-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002904.6(NELFE):c.701G>A(p.Arg234Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000076 in 1,592,414 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NELFE | NM_002904.6 | c.701G>A | p.Arg234Gln | missense_variant | Exon 7 of 11 | ENST00000375429.8 | NP_002895.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000800 AC: 12AN: 150064Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000950 AC: 21AN: 221032Hom.: 0 AF XY: 0.000136 AC XY: 16AN XY: 118028
GnomAD4 exome AF: 0.0000756 AC: 109AN: 1442262Hom.: 0 Cov.: 34 AF XY: 0.0000881 AC XY: 63AN XY: 715180
GnomAD4 genome AF: 0.0000799 AC: 12AN: 150152Hom.: 0 Cov.: 31 AF XY: 0.000137 AC XY: 10AN XY: 73204
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.701G>A (p.R234Q) 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 701, causing the arginine (R) at amino acid position 234 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