chr4-38905820-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138389.4(FAM114A1):c.616C>T(p.Arg206Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000105 in 1,614,040 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R206Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_138389.4 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 |
---|---|---|---|---|---|---|---|
FAM114A1 | NM_138389.4 | c.616C>T | p.Arg206Trp | missense_variant | 6/15 | ENST00000358869.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM114A1 | ENST00000358869.5 | c.616C>T | p.Arg206Trp | missense_variant | 6/15 | 1 | NM_138389.4 | P1 | |
FAM114A1 | ENST00000515037.5 | c.-6C>T | 5_prime_UTR_variant | 4/13 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000322 AC: 49AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251094Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135710
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461770Hom.: 0 Cov.: 31 AF XY: 0.0000729 AC XY: 53AN XY: 727200
GnomAD4 genome ? AF: 0.000322 AC: 49AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.616C>T (p.R206W) alteration is located in exon 6 (coding exon 4) of the FAM114A1 gene. This alteration results from a C to T substitution at nucleotide position 616, causing the arginine (R) at amino acid position 206 to be replaced by a tryptophan (W). 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