9-114061098-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001633.4(AMBP):c.854C>T(p.Ala285Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000149 in 1,613,774 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001633.4 missense, splice_region
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMBP | NM_001633.4 | c.854C>T | p.Ala285Val | missense_variant, splice_region_variant | 9/10 | ENST00000265132.8 | NP_001624.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMBP | ENST00000265132.8 | c.854C>T | p.Ala285Val | missense_variant, splice_region_variant | 9/10 | 1 | NM_001633.4 | ENSP00000265132 | P1 | |
AMBP | ENST00000466610.6 | c.494-21C>T | intron_variant | 3 | ENSP00000475149 | |||||
AMBP | ENST00000540645.5 | n.1168C>T | non_coding_transcript_exon_variant | 8/8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000840 AC: 21AN: 249872Hom.: 0 AF XY: 0.0000888 AC XY: 12AN XY: 135120
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461416Hom.: 1 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 726976
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 19, 2023 | The c.854C>T (p.A285V) alteration is located in exon 9 (coding exon 9) of the AMBP gene. This alteration results from a C to T substitution at nucleotide position 854, causing the alanine (A) at amino acid position 285 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