1-169395103-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001300969.2(CCDC181):c.1474C>T(p.His492Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,440 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001300969.2 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 |
---|---|---|---|---|---|---|---|
CCDC181 | NM_001300969.2 | c.1474C>T | p.His492Tyr | missense_variant | 6/6 | ENST00000367806.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC181 | ENST00000367806.8 | c.1474C>T | p.His492Tyr | missense_variant | 6/6 | 1 | NM_001300969.2 | A1 | |
CCDC181 | ENST00000367805.7 | c.1471C>T | p.His491Tyr | missense_variant | 6/6 | 1 | P4 | ||
CCDC181 | ENST00000545005.5 | c.1471C>T | p.His491Tyr | missense_variant | 7/7 | 1 | P4 | ||
BLZF1 | ENST00000329281.6 | c.*28-791G>A | intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250628Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135488
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461228Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726916
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at