3-183938001-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_005688.4(ABCC5):āc.3754A>Gā(p.Lys1252Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005688.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC5 | NM_005688.4 | c.3754A>G | p.Lys1252Glu | missense_variant | 26/30 | ENST00000334444.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC5 | ENST00000334444.11 | c.3754A>G | p.Lys1252Glu | missense_variant | 26/30 | 1 | NM_005688.4 | P1 | |
ABCC5 | ENST00000265586.10 | c.3625A>G | p.Lys1209Glu | missense_variant | 25/29 | 5 | |||
ABCC5 | ENST00000443497.1 | c.198A>G | p.Ser66= | synonymous_variant, NMD_transcript_variant | 3/6 | 4 | |||
ABCC5 | ENST00000437205.5 | c.*2447A>G | 3_prime_UTR_variant, NMD_transcript_variant | 26/30 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727244
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at