8-8797426-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004225.3(MFHAS1):c.3064G>A(p.Glu1022Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MFHAS1 | ENST00000276282.7 | c.3064G>A | p.Glu1022Lys | missense_variant | Exon 2 of 3 | 1 | NM_004225.3 | ENSP00000276282.6 | ||
MFHAS1 | ENST00000520091.1 | n.382G>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 4 | |||||
MFHAS1 | ENST00000520715.5 | n.111G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 | |||||
MFHAS1 | ENST00000521881.5 | n.108G>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3064G>A (p.E1022K) alteration is located in exon 2 (coding exon 2) of the MFHAS1 gene. This alteration results from a G to A substitution at nucleotide position 3064, causing the glutamic acid (E) at amino acid position 1022 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.