chrX-8798983-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_174951.3(FAM9A):c.203C>T(p.Pro68Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,211,727 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 15 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_174951.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM9A | NM_174951.3 | c.203C>T | p.Pro68Leu | missense_variant | 3/10 | ENST00000381003.7 | |
FAM9A | NM_001171186.1 | c.203C>T | p.Pro68Leu | missense_variant | 3/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM9A | ENST00000381003.7 | c.203C>T | p.Pro68Leu | missense_variant | 3/10 | 1 | NM_174951.3 | P1 | |
FAM9A | ENST00000543214.1 | c.203C>T | p.Pro68Leu | missense_variant | 3/10 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000352 AC: 4AN: 113506Hom.: 0 Cov.: 24 AF XY: 0.0000281 AC XY: 1AN XY: 35630
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183211Hom.: 0 AF XY: 0.0000443 AC XY: 3AN XY: 67683
GnomAD4 exome AF: 0.0000319 AC: 35AN: 1098167Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 14AN XY: 363535
GnomAD4 genome AF: 0.0000352 AC: 4AN: 113560Hom.: 0 Cov.: 24 AF XY: 0.0000280 AC XY: 1AN XY: 35694
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at