5-177402327-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM1
The NM_000505.4(F12):c.1813T>C(p.Tyr605His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,760 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000505.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F12 | NM_000505.4 | c.1813T>C | p.Tyr605His | missense_variant | 14/14 | ENST00000253496.4 | |
F12 | XM_011534462.3 | c.1477T>C | p.Tyr493His | missense_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F12 | ENST00000253496.4 | c.1813T>C | p.Tyr605His | missense_variant | 14/14 | 1 | NM_000505.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250584Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135694
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461510Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727048
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74376
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.1813T>C (p.Y605H) alteration is located in exon 14 (coding exon 14) of the F12 gene. This alteration results from a T to C substitution at nucleotide position 1813, causing the tyrosine (Y) at amino acid position 605 to be replaced by a histidine (H). 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