chr1-91273778-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001017975.6(HFM1):c.3706G>A(p.Glu1236Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000692 in 1,445,424 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001017975.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HFM1 | ENST00000370425.8 | c.3706G>A | p.Glu1236Lys | missense_variant | Exon 34 of 39 | 1 | NM_001017975.6 | ENSP00000359454.3 | ||
HFM1 | ENST00000430465.1 | c.1339G>A | p.Glu447Lys | missense_variant | Exon 15 of 19 | 1 | ENSP00000387661.1 | |||
HFM1 | ENST00000462405.5 | n.1632G>A | non_coding_transcript_exon_variant | Exon 17 of 21 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1445424Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 720204
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3706G>A (p.E1236K) alteration is located in exon 34 (coding exon 33) of the HFM1 gene. This alteration results from a G to A substitution at nucleotide position 3706, causing the glutamic acid (E) at amino acid position 1236 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