chr16-259493-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032039.4(FAM234A):āc.279C>Gā(p.Asp93Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000325 in 1,598,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032039.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM234A | NM_032039.4 | c.279C>G | p.Asp93Glu | missense_variant | 4/13 | ENST00000399932.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM234A | ENST00000399932.8 | c.279C>G | p.Asp93Glu | missense_variant | 4/13 | 1 | NM_032039.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000145 AC: 36AN: 249052Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135126
GnomAD4 exome AF: 0.0000284 AC: 41AN: 1445736Hom.: 0 Cov.: 28 AF XY: 0.0000194 AC XY: 14AN XY: 720396
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152290Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 15, 2023 | The c.279C>G (p.D93E) alteration is located in exon 4 (coding exon 2) of the FAM234A gene. This alteration results from a C to G substitution at nucleotide position 279, causing the aspartic acid (D) at amino acid position 93 to be replaced by a glutamic acid (E). 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