rs5248
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001836.5(CMA1):c.210-4A>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0829 in 1,612,974 control chromosomes in the GnomAD database, including 6,185 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001836.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CMA1 | NM_001836.5 | c.210-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000250378.7 | |||
CMA1 | NM_001308083.2 | c.-124-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CMA1 | ENST00000250378.7 | c.210-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001836.5 | P1 | |||
CMA1 | ENST00000206446.4 | c.-124-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
ENST00000555109.1 | n.144-1526T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0908 AC: 13808AN: 151996Hom.: 710 Cov.: 32
GnomAD3 exomes AF: 0.0859 AC: 21490AN: 250260Hom.: 1148 AF XY: 0.0857 AC XY: 11593AN XY: 135200
GnomAD4 exome AF: 0.0820 AC: 119804AN: 1460860Hom.: 5475 Cov.: 33 AF XY: 0.0822 AC XY: 59762AN XY: 726724
GnomAD4 genome ? AF: 0.0909 AC: 13832AN: 152114Hom.: 710 Cov.: 32 AF XY: 0.0891 AC XY: 6629AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at