8-8890416-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004225.3(MFHAS1):c.2643G>T(p.Gln881His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFHAS1 | NM_004225.3 | c.2643G>T | p.Gln881His | missense_variant | Exon 1 of 3 | ENST00000276282.7 | NP_004216.2 | |
MFHAS1 | XM_047422419.1 | c.2643G>T | p.Gln881His | missense_variant | Exon 1 of 3 | XP_047278375.1 | ||
MFHAS1 | XM_011543852.4 | c.2643G>T | p.Gln881His | missense_variant | Exon 1 of 2 | XP_011542154.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251292Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135818
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461668Hom.: 0 Cov.: 80 AF XY: 0.00000825 AC XY: 6AN XY: 727144
GnomAD4 genome AF: 0.000171 AC: 26AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2643G>T (p.Q881H) alteration is located in exon 1 (coding exon 1) of the MFHAS1 gene. This alteration results from a G to T substitution at nucleotide position 2643, causing the glutamine (Q) at amino acid position 881 to be replaced by a histidine (H). 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