1-211360715-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001033910.3(TRAF5):āc.557A>Gā(p.Asn186Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,574 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N186H) has been classified as Likely benign.
Frequency
Consequence
NM_001033910.3 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 |
---|---|---|---|---|---|---|---|
TRAF5 | NM_001033910.3 | c.557A>G | p.Asn186Ser | missense_variant | 6/11 | ENST00000261464.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRAF5 | ENST00000261464.10 | c.557A>G | p.Asn186Ser | missense_variant | 6/11 | 1 | NM_001033910.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251080Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135708
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461574Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727082
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 18, 2023 | The c.557A>G (p.N186S) alteration is located in exon 6 (coding exon 5) of the TRAF5 gene. This alteration results from a A to G substitution at nucleotide position 557, causing the asparagine (N) at amino acid position 186 to be replaced by a serine (S). 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