rs374223163
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005334.3(HCFC1):c.2691G>T(p.Ala897=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000885 in 112,973 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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. A897A) has been classified as Likely benign.
Frequency
Consequence
NM_005334.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HCFC1 | NM_005334.3 | c.2691G>T | p.Ala897= | synonymous_variant | 16/26 | ENST00000310441.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCFC1 | ENST00000310441.12 | c.2691G>T | p.Ala897= | synonymous_variant | 16/26 | 1 | NM_005334.3 | P2 | |
HCFC1 | ENST00000369984.4 | c.2691G>T | p.Ala897= | synonymous_variant | 16/26 | 5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000885 AC: 1AN: 112973Hom.: 0 Cov.: 25 AF XY: 0.0000285 AC XY: 1AN XY: 35125
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000885 AC: 1AN: 112973Hom.: 0 Cov.: 25 AF XY: 0.0000285 AC XY: 1AN XY: 35125
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at