8-8797388-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_004225.3(MFHAS1):c.3102G>A(p.Pro1034Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 1,613,694 control chromosomes in the GnomAD database, including 28,180 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_004225.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MFHAS1 | ENST00000276282.7 | c.3102G>A | p.Pro1034Pro | synonymous_variant | Exon 2 of 3 | 1 | NM_004225.3 | ENSP00000276282.6 | ||
MFHAS1 | ENST00000520091.1 | n.420G>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 4 | |||||
MFHAS1 | ENST00000520715.5 | n.149G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 | |||||
MFHAS1 | ENST00000521881.5 | n.146G>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.140 AC: 21233AN: 151934Hom.: 1882 Cov.: 31
GnomAD3 exomes AF: 0.149 AC: 37557AN: 251342Hom.: 3229 AF XY: 0.153 AC XY: 20798AN XY: 135838
GnomAD4 exome AF: 0.185 AC: 269789AN: 1461642Hom.: 26298 Cov.: 31 AF XY: 0.183 AC XY: 133204AN XY: 727134
GnomAD4 genome AF: 0.140 AC: 21249AN: 152052Hom.: 1882 Cov.: 31 AF XY: 0.138 AC XY: 10244AN XY: 74328
ClinVar
Submissions by phenotype
MFHAS1-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