chr3-183949858-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_005688.4(ABCC5):c.3122G>T(p.Arg1041Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005688.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC5 | NM_005688.4 | c.3122G>T | p.Arg1041Leu | missense_variant | 22/30 | ENST00000334444.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC5 | ENST00000334444.11 | c.3122G>T | p.Arg1041Leu | missense_variant | 22/30 | 1 | NM_005688.4 | P1 | |
ABCC5 | ENST00000265586.10 | c.3098+114G>T | intron_variant | 5 | |||||
ABCC5 | ENST00000437205.5 | c.*1815G>T | 3_prime_UTR_variant, NMD_transcript_variant | 22/30 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.