8-8890136-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004225.3(MFHAS1):c.2923G>A(p.Gly975Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,614,032 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004225.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFHAS1 | NM_004225.3 | c.2923G>A | p.Gly975Arg | missense_variant | Exon 1 of 3 | ENST00000276282.7 | NP_004216.2 | |
MFHAS1 | XM_047422419.1 | c.2923G>A | p.Gly975Arg | missense_variant | Exon 1 of 3 | XP_047278375.1 | ||
MFHAS1 | XM_011543852.4 | c.2923G>A | p.Gly975Arg | missense_variant | Exon 1 of 2 | XP_011542154.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 249010Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134782
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727222
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2923G>A (p.G975R) alteration is located in exon 1 (coding exon 1) of the MFHAS1 gene. This alteration results from a G to A substitution at nucleotide position 2923, causing the glycine (G) at amino acid position 975 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at