rs730106
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005334.3(HCFC1):c.2841A>T(p.Pro947=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P947P) has been classified as Benign.
Frequency
Consequence
NM_005334.3 synonymous
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 |
---|---|---|---|---|---|---|---|
HCFC1 | NM_005334.3 | c.2841A>T | p.Pro947= | synonymous_variant | 16/26 | ENST00000310441.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCFC1 | ENST00000310441.12 | c.2841A>T | p.Pro947= | synonymous_variant | 16/26 | 1 | NM_005334.3 | P2 | |
HCFC1 | ENST00000369984.4 | c.2841A>T | p.Pro947= | synonymous_variant | 16/26 | 5 | A2 |
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 25
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at