rs10781507
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003086.4(SNAPC4):c.4221T>G(p.Ser1407Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000719 in 1,391,460 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S1407S) has been classified as Benign.
Frequency
Consequence
NM_003086.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SNAPC4 | NM_003086.4 | c.4221T>G | p.Ser1407Arg | missense_variant | 22/24 | ENST00000684778.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNAPC4 | ENST00000684778.1 | c.4221T>G | p.Ser1407Arg | missense_variant | 22/24 | NM_003086.4 | P1 | ||
SNAPC4 | ENST00000298532.2 | c.4221T>G | p.Ser1407Arg | missense_variant | 21/23 | 1 | P1 | ||
SNAPC4 | ENST00000637388.2 | c.4221T>G | p.Ser1407Arg | missense_variant | 22/24 | 5 | P1 | ||
SNAPC4 | ENST00000689006.1 | c.*3434T>G | 3_prime_UTR_variant, NMD_transcript_variant | 22/24 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 7.19e-7 AC: 1AN: 1391460Hom.: 0 Cov.: 45 AF XY: 0.00000146 AC XY: 1AN XY: 684094
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at