rs1192668098
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6_Very_StrongBP7
The NM_001159702.3(FHL1):āc.120T>Cā(p.Cys40=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000546 in 1,098,262 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001159702.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FHL1 | NM_001159702.3 | c.120T>C | p.Cys40= | synonymous_variant | 3/8 | ENST00000394155.8 | |
FHL1 | NM_001159699.2 | c.168T>C | p.Cys56= | synonymous_variant | 2/6 | ENST00000370683.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FHL1 | ENST00000394155.8 | c.120T>C | p.Cys40= | synonymous_variant | 3/8 | 5 | NM_001159702.3 | ||
FHL1 | ENST00000370683.6 | c.168T>C | p.Cys56= | synonymous_variant | 2/6 | 1 | NM_001159699.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183484Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67918
GnomAD4 exome AF: 0.00000546 AC: 6AN: 1098262Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363616
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
X-linked myopathy with postural muscle atrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
Cardiovascular phenotype Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 05, 2020 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at