rs139682930
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003086.4(SNAPC4):āc.2401G>Cā(p.Asp801His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,603,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. D801N) has been classified as Uncertain significance.
Frequency
Consequence
NM_003086.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SNAPC4 | NM_003086.4 | c.2401G>C | p.Asp801His | missense_variant | 20/24 | ENST00000684778.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNAPC4 | ENST00000684778.1 | c.2401G>C | p.Asp801His | missense_variant | 20/24 | NM_003086.4 | P1 | ||
SNAPC4 | ENST00000298532.2 | c.2401G>C | p.Asp801His | missense_variant | 19/23 | 1 | P1 | ||
SNAPC4 | ENST00000637388.2 | c.2401G>C | p.Asp801His | missense_variant | 20/24 | 5 | P1 | ||
SNAPC4 | ENST00000689006.1 | c.*1614G>C | 3_prime_UTR_variant, NMD_transcript_variant | 20/24 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1451096Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 722482
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at