7-151049195-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004769.4(ASIC3):c.310C>T(p.Pro104Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000151 in 1,461,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004769.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASIC3 | NM_004769.4 | c.310C>T | p.Pro104Ser | missense_variant | 1/11 | ENST00000349064.10 | |
ASIC3 | NM_020321.3 | c.310C>T | p.Pro104Ser | missense_variant | 1/11 | ||
ASIC3 | NM_020322.3 | c.310C>T | p.Pro104Ser | missense_variant | 1/10 | ||
ASIC3 | NR_046401.1 | n.904C>T | non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASIC3 | ENST00000349064.10 | c.310C>T | p.Pro104Ser | missense_variant | 1/11 | 1 | NM_004769.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461106Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726896
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 09, 2021 | The c.310C>T (p.P104S) alteration is located in exon 1 (coding exon 1) of the ASIC3 gene. This alteration results from a C to T substitution at nucleotide position 310, causing the proline (P) at amino acid position 104 to be replaced by a serine (S). 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