19-1784856-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138813.4(ATP8B3):c.3623G>A(p.Arg1208Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000754 in 1,458,618 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138813.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP8B3 | NM_138813.4 | c.3623G>A | p.Arg1208Gln | missense_variant | Exon 28 of 29 | ENST00000310127.10 | NP_620168.1 | |
ATP8B3 | NM_001178002.3 | c.3512G>A | p.Arg1171Gln | missense_variant | Exon 28 of 29 | NP_001171473.1 | ||
ATP8B3 | NR_047593.3 | n.4006G>A | non_coding_transcript_exon_variant | Exon 28 of 29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATP8B3 | ENST00000310127.10 | c.3623G>A | p.Arg1208Gln | missense_variant | Exon 28 of 29 | 1 | NM_138813.4 | ENSP00000311336.6 | ||
ATP8B3 | ENST00000525591.5 | c.3512G>A | p.Arg1171Gln | missense_variant | Exon 28 of 29 | 1 | ENSP00000437115.1 | |||
ATP8B3 | ENST00000531925.5 | n.*3506G>A | non_coding_transcript_exon_variant | Exon 28 of 29 | 2 | ENSP00000444334.1 | ||||
ATP8B3 | ENST00000531925.5 | n.*3506G>A | 3_prime_UTR_variant | Exon 28 of 29 | 2 | ENSP00000444334.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 242654Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 131932
GnomAD4 exome AF: 0.00000754 AC: 11AN: 1458618Hom.: 0 Cov.: 30 AF XY: 0.00000552 AC XY: 4AN XY: 725176
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3623G>A (p.R1208Q) alteration is located in exon 28 (coding exon 27) of the ATP8B3 gene. This alteration results from a G to A substitution at nucleotide position 3623, causing the arginine (R) at amino acid position 1208 to be replaced by a glutamine (Q). 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