8-143429783-ATGGTGG-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_201589.4(MAFA):c.618_623delCCACCA(p.His207_His208del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.105 in 1,041,888 control chromosomes in the GnomAD database, including 3,246 homozygotes. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_201589.4 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAFA | ENST00000333480.3 | c.618_623delCCACCA | p.His207_His208del | disruptive_inframe_deletion | Exon 1 of 1 | 6 | NM_201589.4 | ENSP00000328364.2 | ||
MAFA | ENST00000528185.1 | n.110_115delCCACCA | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0590 AC: 8648AN: 146588Hom.: 345 Cov.: 0
GnomAD3 exomes AF: 0.114 AC: 7749AN: 68082Hom.: 142 AF XY: 0.114 AC XY: 4266AN XY: 37262
GnomAD4 exome AF: 0.113 AC: 101200AN: 895184Hom.: 2901 AF XY: 0.113 AC XY: 49285AN XY: 436250
GnomAD4 genome AF: 0.0589 AC: 8647AN: 146704Hom.: 345 Cov.: 0 AF XY: 0.0563 AC XY: 4023AN XY: 71456
ClinVar
Submissions by phenotype
MAFA-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at