8-8890717-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004225.3(MFHAS1):c.2342G>T(p.Arg781Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,566 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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 Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MFHAS1 | NM_004225.3 | c.2342G>T | p.Arg781Leu | missense_variant | 1/3 | ENST00000276282.7 | |
MFHAS1 | XM_047422419.1 | c.2342G>T | p.Arg781Leu | missense_variant | 1/3 | ||
MFHAS1 | XM_011543852.4 | c.2342G>T | p.Arg781Leu | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MFHAS1 | ENST00000276282.7 | c.2342G>T | p.Arg781Leu | missense_variant | 1/3 | 1 | NM_004225.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461190Hom.: 0 Cov.: 79 AF XY: 0.0000110 AC XY: 8AN XY: 726838
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152376Hom.: 1 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74516
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 08, 2024 | The c.2342G>T (p.R781L) 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 2342, causing the arginine (R) at amino acid position 781 to be replaced by a leucine (L). 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