NM_032251.6:c.739G>A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_032251.6(CCDC88B):c.739G>A(p.Ala247Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_032251.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC88B | NM_032251.6 | c.739G>A | p.Ala247Thr | missense_variant | Exon 8 of 27 | ENST00000356786.10 | NP_115627.6 | |
MIR7155 | NR_106977.1 | n.-153C>T | upstream_gene_variant | |||||
MIR7155 | unassigned_transcript_1890 | n.-190C>T | upstream_gene_variant | |||||
MIR7155 | unassigned_transcript_1891 | n.-153C>T | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC88B | ENST00000356786.10 | c.739G>A | p.Ala247Thr | missense_variant | Exon 8 of 27 | 1 | NM_032251.6 | ENSP00000349238.5 | ||
CCDC88B | ENST00000463837.5 | n.783G>A | non_coding_transcript_exon_variant | Exon 8 of 25 | 2 | |||||
CCDC88B | ENST00000494080.5 | n.201G>A | non_coding_transcript_exon_variant | Exon 2 of 20 | 2 | |||||
MIR7155 | ENST00000615925.1 | n.-153C>T | upstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at