chr7-99385756-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP6_ModerateBP7
The NM_005720.4(ARPC1B):c.42C>T(p.His14His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,610,848 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_005720.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARPC1B | ENST00000646101.2 | c.42C>T | p.His14His | synonymous_variant | Exon 2 of 10 | NM_005720.4 | ENSP00000496599.1 | |||
ENSG00000284292 | ENST00000638617.1 | c.1038C>T | p.His346His | synonymous_variant | Exon 9 of 17 | 5 | ENSP00000491073.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000205 AC: 5AN: 243364Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131878
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1458638Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 725424
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not provided Benign:1
- -
ARPC1B-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at