NM_002622.5:c.14T>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002622.5(PFDN1):āc.14T>Gā(p.Val5Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,710 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V5A) has been classified as Uncertain significance.
Frequency
Consequence
NM_002622.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
PFDN1 | ENST00000261813.9 | c.14T>G | p.Val5Gly | missense_variant | Exon 1 of 4 | 1 | NM_002622.5 | ENSP00000261813.4 | ||
PFDN1 | ENST00000524074.1 | c.14T>G | p.Val5Gly | missense_variant | Exon 1 of 5 | 5 | ENSP00000428707.1 | |||
PFDN1 | ENST00000510217.1 | c.14T>G | p.Val5Gly | missense_variant | Exon 1 of 3 | 2 | ENSP00000426383.1 | |||
PFDN1 | ENST00000507185.1 | n.27T>G | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251456Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135898
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460710Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726786
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at