chr1-56949637-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000066.4(C8B):c.782C>T(p.Pro261Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0519 in 1,613,678 control chromosomes in the GnomAD database, including 2,456 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000066.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C8B | NM_000066.4 | c.782C>T | p.Pro261Leu | missense_variant | 6/12 | ENST00000371237.9 | |
C8B | NM_001278543.2 | c.626C>T | p.Pro209Leu | missense_variant | 7/13 | ||
C8B | NM_001278544.2 | c.596C>T | p.Pro199Leu | missense_variant | 7/13 | ||
C8B | XM_047429957.1 | c.782C>T | p.Pro261Leu | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C8B | ENST00000371237.9 | c.782C>T | p.Pro261Leu | missense_variant | 6/12 | 1 | NM_000066.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0535 AC: 8127AN: 151962Hom.: 204 Cov.: 32
GnomAD3 exomes AF: 0.0481 AC: 12072AN: 251034Hom.: 335 AF XY: 0.0492 AC XY: 6670AN XY: 135666
GnomAD4 exome AF: 0.0518 AC: 75673AN: 1461598Hom.: 2252 Cov.: 32 AF XY: 0.0522 AC XY: 37956AN XY: 727122
GnomAD4 genome AF: 0.0535 AC: 8133AN: 152080Hom.: 204 Cov.: 32 AF XY: 0.0526 AC XY: 3913AN XY: 74332
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at