chr6-156777698-AGCGGCGGCG-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP3BP6_ModerateBS1BS2
The NM_001374828.1(ARID1B):c.34_42del(p.Ala12_Ala14del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00249 in 146,744 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A7A) has been classified as Likely benign.
Frequency
Consequence
NM_001374828.1 inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.34_42del | p.Ala12_Ala14del | inframe_deletion | 1/20 | ENST00000636930.2 | |
LOC115308161 | NR_163974.1 | n.274-276_274-268del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.34_42del | p.Ala12_Ala14del | inframe_deletion | 1/20 | 2 | NM_001374828.1 | A2 | |
ENST00000603191.2 | n.178-276_178-268del | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00249 AC: 358AN: 143530Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00253 AC: 8AN: 3162Hom.: 0 AF XY: 0.00134 AC XY: 2AN XY: 1498
GnomAD4 genome ? AF: 0.00249 AC: 357AN: 143582Hom.: 0 Cov.: 31 AF XY: 0.00261 AC XY: 182AN XY: 69816
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | ARID1B: BS1 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at