chr2-219210394-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005689.4(ABCB6):c.2338G>T(p.Val780Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V780I) has been classified as Uncertain significance.
Frequency
Consequence
NM_005689.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCB6 | ENST00000265316.9 | c.2338G>T | p.Val780Leu | missense_variant | Exon 17 of 19 | 1 | NM_005689.4 | ENSP00000265316.3 | ||
ENSG00000284820 | ENST00000446716.5 | n.*4122G>T | non_coding_transcript_exon_variant | Exon 20 of 22 | 2 | ENSP00000398528.1 | ||||
ENSG00000284820 | ENST00000446716.5 | n.*4122G>T | 3_prime_UTR_variant | Exon 20 of 22 | 2 | ENSP00000398528.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at