1-56929554-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000066.4(C8B):c.1626C>T(p.Thr542=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,388 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T542T) has been classified as Likely benign.
Frequency
Consequence
NM_000066.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C8B | NM_000066.4 | c.1626C>T | p.Thr542= | synonymous_variant | 12/12 | ENST00000371237.9 | |
C8B | NM_001278543.2 | c.1470C>T | p.Thr490= | synonymous_variant | 13/13 | ||
C8B | NM_001278544.2 | c.1440C>T | p.Thr480= | synonymous_variant | 13/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C8B | ENST00000371237.9 | c.1626C>T | p.Thr542= | synonymous_variant | 12/12 | 1 | NM_000066.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248948Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134708
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461388Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727022
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at