rs202676
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_004476.3(FOLH1):āc.223T>Cā(p.Tyr75His) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.26 in 1,609,292 control chromosomes in the GnomAD database, including 59,093 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004476.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLH1 | NM_004476.3 | c.223T>C | p.Tyr75His | missense_variant, splice_region_variant | 2/19 | ENST00000256999.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLH1 | ENST00000256999.7 | c.223T>C | p.Tyr75His | missense_variant, splice_region_variant | 2/19 | 1 | NM_004476.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.325 AC: 49330AN: 151958Hom.: 9382 Cov.: 33
GnomAD3 exomes AF: 0.277 AC: 69023AN: 248876Hom.: 10610 AF XY: 0.274 AC XY: 36918AN XY: 134626
GnomAD4 exome AF: 0.253 AC: 368527AN: 1457216Hom.: 49698 Cov.: 32 AF XY: 0.254 AC XY: 183966AN XY: 724820
GnomAD4 genome AF: 0.325 AC: 49381AN: 152076Hom.: 9395 Cov.: 33 AF XY: 0.327 AC XY: 24351AN XY: 74356
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 28, 2020 | This variant is associated with the following publications: (PMID: 22021659) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at