rs2738787
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003823.4(TNFRSF6B):c.255A>G(p.Leu85=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.928 in 1,608,204 control chromosomes in the GnomAD database, including 693,083 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. L85L) has been classified as Likely benign.
Frequency
Consequence
NM_003823.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNFRSF6B | NM_003823.4 | c.255A>G | p.Leu85= | synonymous_variant | 1/3 | ENST00000369996.3 | |
RTEL1-TNFRSF6B | NR_037882.1 | n.4989A>G | non_coding_transcript_exon_variant | 36/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFRSF6B | ENST00000369996.3 | c.255A>G | p.Leu85= | synonymous_variant | 1/3 | 1 | NM_003823.4 | P1 | |
RTEL1-TNFRSF6B | ENST00000697815.1 | n.2909A>G | non_coding_transcript_exon_variant | 13/15 |
Frequencies
GnomAD3 genomes ? AF: 0.945 AC: 143781AN: 152104Hom.: 68027 Cov.: 33
GnomAD3 exomes AF: 0.939 AC: 222157AN: 236582Hom.: 104387 AF XY: 0.939 AC XY: 121765AN XY: 129742
GnomAD4 exome AF: 0.926 AC: 1348675AN: 1455982Hom.: 624990 Cov.: 110 AF XY: 0.927 AC XY: 671434AN XY: 724560
GnomAD4 genome ? AF: 0.945 AC: 143906AN: 152222Hom.: 68093 Cov.: 33 AF XY: 0.945 AC XY: 70352AN XY: 74418
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF - |
Dyskeratosis congenita, autosomal recessive 5 Benign:1
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at