chr2-214989432-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_173076.3(ABCA12):āc.3726G>Cā(p.Pro1242=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1242P) has been classified as Benign.
Frequency
Consequence
NM_173076.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCA12 | NM_173076.3 | c.3726G>C | p.Pro1242= | synonymous_variant | 26/53 | ENST00000272895.12 | |
ABCA12 | NM_015657.4 | c.2772G>C | p.Pro924= | synonymous_variant | 18/45 | ||
ABCA12 | XM_011510951.3 | c.3726G>C | p.Pro1242= | synonymous_variant | 26/53 | ||
ABCA12 | NR_103740.2 | n.4224G>C | non_coding_transcript_exon_variant | 28/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA12 | ENST00000272895.12 | c.3726G>C | p.Pro1242= | synonymous_variant | 26/53 | 1 | NM_173076.3 | P1 | |
ABCA12 | ENST00000389661.4 | c.2772G>C | p.Pro924= | synonymous_variant | 18/45 | 1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461838Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727226
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at