11-117291719-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012104.6(BACE1):c.935C>T(p.Ala312Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,611,642 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_012104.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BACE1 | NM_012104.6 | c.935C>T | p.Ala312Val | missense_variant | Exon 6 of 9 | ENST00000313005.11 | NP_036236.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251198Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135786
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459326Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726094
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.935C>T (p.A312V) alteration is located in exon 6 (coding exon 6) of the BACE1 gene. This alteration results from a C to T substitution at nucleotide position 935, causing the alanine (A) at amino acid position 312 to be replaced by a valine (V). 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