8-66177297-C-CCTGCGGCTGCTGGGGCTGCTCGGA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000756.4(CRH):c.157_180dupTCCGAGCAGCCCCAGCAGCCGCAG(p.Gln60_Ala61insSerGluGlnProGlnGlnProGln) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000756.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRH | NM_000756.4 | c.157_180dupTCCGAGCAGCCCCAGCAGCCGCAG | p.Gln60_Ala61insSerGluGlnProGlnGlnProGln | conservative_inframe_insertion | Exon 2 of 2 | ENST00000276571.5 | NP_000747.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.157_180dup24 variant (also known as p.S53_Q60dup), located in coding exon 1 of the CRH gene, results from an in-frame duplication of 24 nucleotides at nucleotide positions 157 to 180. This results in the duplication of 8 extra residues (SEQPQQPQ) between codons 53 and 60. These amino acid positions are poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.