rs12620556
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_138803.4(CCDC148):c.469A>G(p.Met157Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0972 in 1,613,240 control chromosomes in the GnomAD database, including 11,744 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_138803.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC148 | NM_138803.4 | c.469A>G | p.Met157Val | missense_variant | 5/14 | ENST00000283233.10 | |
CCDC148 | NM_001301685.2 | c.469A>G | p.Met157Val | missense_variant | 5/7 | ||
CCDC148 | NM_001301684.2 | c.48+339A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC148 | ENST00000283233.10 | c.469A>G | p.Met157Val | missense_variant | 5/14 | 1 | NM_138803.4 |
Frequencies
GnomAD3 genomes ? AF: 0.169 AC: 25725AN: 152042Hom.: 3468 Cov.: 32
GnomAD3 exomes AF: 0.118 AC: 29678AN: 250870Hom.: 2709 AF XY: 0.113 AC XY: 15350AN XY: 135588
GnomAD4 exome AF: 0.0897 AC: 131012AN: 1461080Hom.: 8262 Cov.: 31 AF XY: 0.0899 AC XY: 65326AN XY: 726896
GnomAD4 genome ? AF: 0.169 AC: 25785AN: 152160Hom.: 3482 Cov.: 32 AF XY: 0.169 AC XY: 12540AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at