1-15301241-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001391957.1(FHAD1):c.715C>T(p.Arg239Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000245 in 1,551,550 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001391957.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FHAD1 | NM_001391957.1 | c.715C>T | p.Arg239Cys | missense_variant | Exon 6 of 34 | ENST00000688493.1 | NP_001378886.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHAD1 | ENST00000688493.1 | c.715C>T | p.Arg239Cys | missense_variant | Exon 6 of 34 | NM_001391957.1 | ENSP00000509124.1 | |||
FHAD1 | ENST00000683790.1 | c.715C>T | p.Arg239Cys | missense_variant | Exon 6 of 34 | ENSP00000506973.1 | ||||
FHAD1 | ENST00000358897.8 | c.715C>T | p.Arg239Cys | missense_variant | Exon 6 of 31 | 5 | ENSP00000351770.4 | |||
FHAD1 | ENST00000375998.8 | c.715C>T | p.Arg239Cys | missense_variant | Exon 5 of 30 | 5 | ENSP00000365166.4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000383 AC: 6AN: 156858Hom.: 0 AF XY: 0.0000241 AC XY: 2AN XY: 83036
GnomAD4 exome AF: 0.0000250 AC: 35AN: 1399480Hom.: 0 Cov.: 31 AF XY: 0.0000217 AC XY: 15AN XY: 690248
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.715C>T (p.R239C) alteration is located in exon 6 (coding exon 5) of the FHAD1 gene. This alteration results from a C to T substitution at nucleotide position 715, causing the arginine (R) at amino acid position 239 to be replaced by a cysteine (C). 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